Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.101786059_101786076delinsTTTTTTGGTTTTGCAACA | CA2058964799 | GNPTAB | c.507_524delinsTGTTGCAAAACCAAAAAA (p.Asn169=) n.301_318delinsTGTTGCAAAACCAAAAAA c.141_158delinsTGTTGCAAAACCAAAAAA (p.Asn47=) c.426_443delinsTGTTGCAAAACCAAAAAA (p.Asn142=) c.291_308delinsTGTTGCAAAACCAAAAAA (p.Asn97=) c.-844_-827delinsTGTTGCAAAACCAAAAAA (n.-844_-827delinsTGTTGCAAAACCAAAAAA) | |
12 | g.101786062_101786078del | CA607598040 | GNPTAB | c.507_523del (p.Asn169LysfsTer12) n.301_317del c.141_157del (p.Asn47LysfsTer12) c.426_442del (p.Asn142LysfsTer12) c.291_307del (p.Asn97LysfsTer12) c.-844_-828del (n.-844_-828del) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101786070dup | CA2620445720 | GNPTAB | c.516dup (p.Pro173ThrfsTer14) n.310dup c.150dup (p.Pro51ThrfsTer14) c.435dup (p.Pro146ThrfsTer14) c.300dup (p.Pro101ThrfsTer14) c.-835dup (n.-835dup) | gnomAD v4 |
12 | g.101786068T>A | CA386304887 | GNPTAB | c.515A>T (p.Lys172Ile) n.309A>T c.149A>T (p.Lys50Ile) c.434A>T (p.Lys145Ile) c.299A>T (p.Lys100Ile) c.-836A>T (n.-836A>T) | |
12 | g.101786068T>C | CA386304888 | GNPTAB | c.515A>G (p.Lys172Arg) n.309A>G c.149A>G (p.Lys50Arg) c.434A>G (p.Lys145Arg) c.299A>G (p.Lys100Arg) c.-836A>G (n.-836A>G) | |
12 | g.101786068T>G | CA386304889 | GNPTAB | c.515A>C (p.Lys172Thr) n.309A>C c.149A>C (p.Lys50Thr) c.434A>C (p.Lys145Thr) c.299A>C (p.Lys100Thr) c.-836A>C (n.-836A>C) | |
12 | g.101786069T>A | CA386304892 | GNPTAB | c.514A>T (p.Lys172Ter) n.308A>T c.148A>T (p.Lys50Ter) c.433A>T (p.Lys145Ter) c.298A>T (p.Lys100Ter) c.-837A>T (n.-837A>T) | |
12 | g.101786069T>C | CA386304891 | GNPTAB | c.514A>G (p.Lys172Glu) n.308A>G c.148A>G (p.Lys50Glu) c.433A>G (p.Lys145Glu) c.298A>G (p.Lys100Glu) c.-837A>G (n.-837A>G) | |
12 | g.101786069T>G | CA386304890 | GNPTAB | c.514A>C (p.Lys172Gln) n.308A>C c.148A>C (p.Lys50Gln) c.433A>C (p.Lys145Gln) c.298A>C (p.Lys100Gln) c.-837A>C (n.-837A>C) | |
12 | g.101786070T>A | CA481326231 | GNPTAB | c.513A>T (p.Ala171=) n.307A>T c.147A>T (p.Ala49=) c.432A>T (p.Ala144=) c.297A>T (p.Ala99=) c.-838A>T (n.-838A>T) | |
12 | g.101786070T>C | CA6746868 | GNPTAB | c.513A>G (p.Ala171=) n.307A>G c.147A>G (p.Ala49=) c.432A>G (p.Ala144=) c.297A>G (p.Ala99=) c.-838A>G (n.-838A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786070T>G | CA481326234 | GNPTAB | c.513A>C (p.Ala171=) n.307A>C c.147A>C (p.Ala49=) c.432A>C (p.Ala144=) c.297A>C (p.Ala99=) c.-838A>C (n.-838A>C) | |
12 | g.101786070T= | CA2058964805 | GNPTAB | c.513A= (p.Ala171=) n.307A= c.147A= (p.Ala49=) c.432A= (p.Ala144=) c.297A= (p.Ala99=) c.-838A= (n.-838A=) | |
12 | g.101786070_101786074delinsTGCAA | CA2058964804 | GNPTAB | c.509_513delinsTTGCA (p.Val170=) n.303_307delinsTTGCA c.143_147delinsTTGCA (p.Val48=) c.428_432delinsTTGCA (p.Val143=) c.293_297delinsTTGCA (p.Val98=) c.-842_-838delinsTTGCA (n.-842_-838delinsTTGCA) | |
12 | g.101786071G>A | CA6746869 | GNPTAB | c.512C>T (p.Ala171Val) n.306C>T c.146C>T (p.Ala49Val) c.431C>T (p.Ala144Val) c.296C>T (p.Ala99Val) c.-839C>T (n.-839C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786071G>C | CA386304893 | GNPTAB | c.512C>G (p.Ala171Gly) n.306C>G c.146C>G (p.Ala49Gly) c.431C>G (p.Ala144Gly) c.296C>G (p.Ala99Gly) c.-839C>G (n.-839C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101786071G= | CA2058964806 | GNPTAB | c.512C= (p.Ala171=) n.306C= c.146C= (p.Ala49=) c.431C= (p.Ala144=) c.296C= (p.Ala99=) c.-839C= (n.-839C=) | |
12 | g.101786071G>T | CA386304894 | GNPTAB | c.512C>A (p.Ala171Glu) n.306C>A c.146C>A (p.Ala49Glu) c.431C>A (p.Ala144Glu) c.296C>A (p.Ala99Glu) c.-839C>A (n.-839C>A) | |
12 | g.101786071_101786074del | CA607598042 | GNPTAB | c.509_512del (p.Val170GlufsTer?) n.303_306del c.143_146del (p.Val48GlufsTer?) c.428_431del (p.Val143GlufsTer?) c.293_296del (p.Val98GlufsTer?) c.-842_-839del (n.-842_-839del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786072C>A | CA386304895 | GNPTAB | c.511G>T (p.Ala171Ser) n.305G>T c.145G>T (p.Ala49Ser) c.430G>T (p.Ala144Ser) c.295G>T (p.Ala99Ser) c.-840G>T (n.-840G>T) | |
12 | g.101786072C>G | CA386304896 | GNPTAB | c.511G>C (p.Ala171Pro) n.305G>C c.145G>C (p.Ala49Pro) c.430G>C (p.Ala144Pro) c.295G>C (p.Ala99Pro) c.-840G>C (n.-840G>C) | |
12 | g.101786072C>T | CA386304897 | GNPTAB | c.511G>A (p.Ala171Thr) n.305G>A c.145G>A (p.Ala49Thr) c.430G>A (p.Ala144Thr) c.295G>A (p.Ala99Thr) c.-840G>A (n.-840G>A) | |
12 | g.101786073A>C | CA481326237 | GNPTAB | c.510T>G (p.Val170=) n.304T>G c.144T>G (p.Val48=) c.429T>G (p.Val143=) c.294T>G (p.Val98=) c.-841T>G (n.-841T>G) | |
12 | g.101786073A>G | CA481326239 | GNPTAB | c.510T>C (p.Val170=) n.304T>C c.144T>C (p.Val48=) c.429T>C (p.Val143=) c.294T>C (p.Val98=) c.-841T>C (n.-841T>C) | gnomAD v4 |
12 | g.101786073A>T | CA481326238 | GNPTAB | c.510T>A (p.Val170=) n.304T>A c.144T>A (p.Val48=) c.429T>A (p.Val143=) c.294T>A (p.Val98=) c.-841T>A (n.-841T>A) | |
12 | g.101786074A= | CA2058964807 | GNPTAB | c.509T= (p.Val170=) n.303T= c.143T= (p.Val48=) c.428T= (p.Val143=) c.293T= (p.Val98=) c.-842T= (n.-842T=) | |
12 | g.101786074A>C | CA386304898 | GNPTAB | c.509T>G (p.Val170Gly) n.303T>G c.143T>G (p.Val48Gly) c.428T>G (p.Val143Gly) c.293T>G (p.Val98Gly) c.-842T>G (n.-842T>G) | |
12 | g.101786074A>G | CA386304899 | GNPTAB | c.509T>C (p.Val170Ala) n.303T>C c.143T>C (p.Val48Ala) c.428T>C (p.Val143Ala) c.293T>C (p.Val98Ala) c.-842T>C (n.-842T>C) | |
12 | g.101786074A>T | CA386304900 | GNPTAB | c.509T>A (p.Val170Asp) n.303T>A c.143T>A (p.Val48Asp) c.428T>A (p.Val143Asp) c.293T>A (p.Val98Asp) c.-842T>A (n.-842T>A) | |
12 | g.101786074_101786075insTTTTTT | CA607598043 | GNPTAB | c.508_509insAAAAAA (p.Val170delinsGluLysIle) n.302_303insAAAAAA c.142_143insAAAAAA (p.Val48delinsGluLysIle) c.427_428insAAAAAA (p.Val143delinsGluLysIle) c.292_293insAAAAAA (p.Val98delinsGluLysIle) c.-843_-842insAAAAAA (n.-843_-842insAAAAAA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786075del | CA2620445733 | GNPTAB | c.508del (p.Val170LeufsTer?) n.302del c.142del (p.Val48LeufsTer?) c.427del (p.Val143LeufsTer?) c.292del (p.Val98LeufsTer?) c.-843del (n.-843del) | gnomAD v4 |
12 | g.101786075C>A | CA386304901 | GNPTAB | c.508G>T (p.Val170Phe) n.302G>T c.142G>T (p.Val48Phe) c.427G>T (p.Val143Phe) c.292G>T (p.Val98Phe) c.-843G>T (n.-843G>T) | |
12 | g.101786075C>G | CA386304902 | GNPTAB | c.508G>C (p.Val170Leu) n.302G>C c.142G>C (p.Val48Leu) c.427G>C (p.Val143Leu) c.292G>C (p.Val98Leu) c.-843G>C (n.-843G>C) | |
12 | g.101786075C>T | CA386304903 | GNPTAB | c.508G>A (p.Val170Ile) n.302G>A c.142G>A (p.Val48Ile) c.427G>A (p.Val143Ile) c.292G>A (p.Val98Ile) c.-843G>A (n.-843G>A) | |
12 | g.101786075_101786076delinsCA | CA2058964808 | GNPTAB | c.507_508delinsTG (p.Asn169=) n.301_302delinsTG c.141_142delinsTG (p.Asn47=) c.426_427delinsTG (p.Asn142=) c.291_292delinsTG (p.Asn97=) c.-844_-843delinsTG (n.-844_-843delinsTG) | |
12 | g.101786076del | CA2058964809 | GNPTAB | c.507del (p.Asn169LysfsTer?) n.301del c.141del (p.Asn47LysfsTer?) c.426del (p.Asn142LysfsTer?) c.291del (p.Asn97LysfsTer?) c.-844del (n.-844del) | dbSNP |
12 | g.101786076A= | CA2058964810 | GNPTAB | c.507T= (p.Asn169=) n.301T= c.141T= (p.Asn47=) c.426T= (p.Asn142=) c.291T= (p.Asn97=) c.-844T= (n.-844T=) | |
12 | g.101786076A>C | CA386304904 | GNPTAB | c.507T>G (p.Asn169Lys) n.301T>G c.141T>G (p.Asn47Lys) c.426T>G (p.Asn142Lys) c.291T>G (p.Asn97Lys) c.-844T>G (n.-844T>G) | gnomAD v4 |
12 | g.101786076A>G | CA481326241 | GNPTAB | c.507T>C (p.Asn169=) n.301T>C c.141T>C (p.Asn47=) c.426T>C (p.Asn142=) c.291T>C (p.Asn97=) c.-844T>C (n.-844T>C) | ClinVar dbSNP |
12 | g.101786076A>T | CA386304905 | GNPTAB | c.507T>A (p.Asn169Lys) n.301T>A c.141T>A (p.Asn47Lys) c.426T>A (p.Asn142Lys) c.291T>A (p.Asn97Lys) c.-844T>A (n.-844T>A) | |
12 | g.101786077T>A | CA386304906 | GNPTAB | c.506A>T (p.Asn169Ile) n.300A>T c.140A>T (p.Asn47Ile) c.425A>T (p.Asn142Ile) c.290A>T (p.Asn97Ile) c.-845A>T (n.-845A>T) | |
12 | g.101786077T>C | CA6746870 | GNPTAB | c.506A>G (p.Asn169Ser) n.300A>G c.140A>G (p.Asn47Ser) c.425A>G (p.Asn142Ser) c.290A>G (p.Asn97Ser) c.-845A>G (n.-845A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.101786077T>G | CA386304907 | GNPTAB | c.506A>C (p.Asn169Thr) n.300A>C c.140A>C (p.Asn47Thr) c.425A>C (p.Asn142Thr) c.290A>C (p.Asn97Thr) c.-845A>C (n.-845A>C) | |
12 | g.101786077T= | CA2058964811 | GNPTAB | c.506A= (p.Asn169=) n.300A= c.140A= (p.Asn47=) c.425A= (p.Asn142=) c.290A= (p.Asn97=) c.-845A= (n.-845A=) | |
12 | g.101786078T>A | CA386304908 | GNPTAB | c.505A>T (p.Asn169Tyr) n.299A>T c.139A>T (p.Asn47Tyr) c.424A>T (p.Asn142Tyr) c.289A>T (p.Asn97Tyr) c.-846A>T (n.-846A>T) | |
12 | g.101786078T>C | CA386304910 | GNPTAB | c.505A>G (p.Asn169Asp) n.299A>G c.139A>G (p.Asn47Asp) c.424A>G (p.Asn142Asp) c.289A>G (p.Asn97Asp) c.-846A>G (n.-846A>G) | |
12 | g.101786078T>G | CA386304909 | GNPTAB | c.505A>C (p.Asn169His) n.299A>C c.139A>C (p.Asn47His) c.424A>C (p.Asn142His) c.289A>C (p.Asn97His) c.-846A>C (n.-846A>C) | |
12 | g.101786079G>A | CA481326243 | GNPTAB | c.504C>T (p.Phe168=) n.298C>T c.138C>T (p.Phe46=) c.423C>T (p.Phe141=) c.288C>T (p.Phe96=) c.-847C>T (n.-847C>T) | |
12 | g.101786079G>C | CA386304911 | GNPTAB | c.504C>G (p.Phe168Leu) n.298C>G c.138C>G (p.Phe46Leu) c.423C>G (p.Phe141Leu) c.288C>G (p.Phe96Leu) c.-847C>G (n.-847C>G) | |
12 | g.101786079G= | CA2058964812 | GNPTAB | c.504C= (p.Phe168=) n.298C= c.138C= (p.Phe46=) c.423C= (p.Phe141=) c.288C= (p.Phe96=) c.-847C= (n.-847C=) | |
12 | g.101786079G>T | CA386304912 | GNPTAB | c.504C>A (p.Phe168Leu) n.298C>A c.138C>A (p.Phe46Leu) c.423C>A (p.Phe141Leu) c.288C>A (p.Phe96Leu) c.-847C>A (n.-847C>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101786080A>C | CA386304913 | GNPTAB | c.503T>G (p.Phe168Cys) n.297T>G c.137T>G (p.Phe46Cys) c.422T>G (p.Phe141Cys) c.287T>G (p.Phe96Cys) c.-848T>G (n.-848T>G) | |
12 | g.101786080A>G | CA386304915 | GNPTAB | c.503T>C (p.Phe168Ser) n.297T>C c.137T>C (p.Phe46Ser) c.422T>C (p.Phe141Ser) c.287T>C (p.Phe96Ser) c.-848T>C (n.-848T>C) | gnomAD v4 |
12 | g.101786080A>T | CA386304914 | GNPTAB | c.503T>A (p.Phe168Tyr) n.297T>A c.137T>A (p.Phe46Tyr) c.422T>A (p.Phe141Tyr) c.287T>A (p.Phe96Tyr) c.-848T>A (n.-848T>A) | |
12 | g.101786081A>C | CA386304916 | GNPTAB | c.502T>G (p.Phe168Val) n.296T>G c.136T>G (p.Phe46Val) c.421T>G (p.Phe141Val) c.286T>G (p.Phe96Val) c.-849T>G (n.-849T>G) | |
12 | g.101786081A>G | CA386304917 | GNPTAB | c.502T>C (p.Phe168Leu) n.296T>C c.136T>C (p.Phe46Leu) c.421T>C (p.Phe141Leu) c.286T>C (p.Phe96Leu) c.-849T>C (n.-849T>C) | |
12 | g.101786081A>T | CA386304918 | GNPTAB | c.502T>A (p.Phe168Ile) n.296T>A c.136T>A (p.Phe46Ile) c.421T>A (p.Phe141Ile) c.286T>A (p.Phe96Ile) c.-849T>A (n.-849T>A) | |
12 | g.101786082A>C | CA386304919 | GNPTAB | c.501T>G (p.Ile167Met) n.295T>G c.135T>G (p.Ile45Met) c.420T>G (p.Ile140Met) c.285T>G (p.Ile95Met) c.-850T>G (n.-850T>G) | |
12 | g.101786082A>G | CA481326244 | GNPTAB | c.501T>C (p.Ile167=) n.295T>C c.135T>C (p.Ile45=) c.420T>C (p.Ile140=) c.285T>C (p.Ile95=) c.-850T>C (n.-850T>C) | |
12 | g.101786082A>T | CA481326246 | GNPTAB | c.501T>A (p.Ile167=) n.295T>A c.135T>A (p.Ile45=) c.420T>A (p.Ile140=) c.285T>A (p.Ile95=) c.-850T>A (n.-850T>A) | |
12 | g.101786083A= | CA2058964813 | GNPTAB | c.500T= (p.Ile167=) n.294T= c.134T= (p.Ile45=) c.419T= (p.Ile140=) c.284T= (p.Ile95=) c.-851T= (n.-851T=) | |
12 | g.101786083A>C | CA386304920 | GNPTAB | c.500T>G (p.Ile167Ser) n.294T>G c.134T>G (p.Ile45Ser) c.419T>G (p.Ile140Ser) c.284T>G (p.Ile95Ser) c.-851T>G (n.-851T>G) | |
12 | g.101786083A>G | CA386304921 | GNPTAB | c.500T>C (p.Ile167Thr) n.294T>C c.134T>C (p.Ile45Thr) c.419T>C (p.Ile140Thr) c.284T>C (p.Ile95Thr) c.-851T>C (n.-851T>C) | |
12 | g.101786083A>T | CA6746871 | GNPTAB | c.500T>A (p.Ile167Asn) n.294T>A c.134T>A (p.Ile45Asn) c.419T>A (p.Ile140Asn) c.284T>A (p.Ile95Asn) c.-851T>A (n.-851T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786084T>A | CA386304922 | GNPTAB | c.499A>T (p.Ile167Phe) n.293A>T c.133A>T (p.Ile45Phe) c.418A>T (p.Ile140Phe) c.283A>T (p.Ile95Phe) c.-852A>T (n.-852A>T) | |
12 | g.101786084T>C | CA386304923 | GNPTAB | c.499A>G (p.Ile167Val) n.293A>G c.133A>G (p.Ile45Val) c.418A>G (p.Ile140Val) c.283A>G (p.Ile95Val) c.-852A>G (n.-852A>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101786084T>G | CA386304924 | GNPTAB | c.499A>C (p.Ile167Leu) n.293A>C c.133A>C (p.Ile45Leu) c.418A>C (p.Ile140Leu) c.283A>C (p.Ile95Leu) c.-852A>C (n.-852A>C) | |
12 | g.101786084T= | CA2058964814 | GNPTAB | c.499A= (p.Ile167=) n.293A= c.133A= (p.Ile45=) c.418A= (p.Ile140=) c.283A= (p.Ile95=) c.-852A= (n.-852A=) | |
12 | g.101786085G>A | CA481326247 | GNPTAB | c.498C>T (p.Asp166=) n.292C>T c.132C>T (p.Asp44=) c.417C>T (p.Asp139=) c.282C>T (p.Asp94=) c.-853C>T (n.-853C>T) | |
12 | g.101786085G>C | CA6746872 | GNPTAB | c.498C>G (p.Asp166Glu) n.292C>G c.132C>G (p.Asp44Glu) c.417C>G (p.Asp139Glu) c.282C>G (p.Asp94Glu) c.-853C>G (n.-853C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786085G= | CA2058964815 | GNPTAB | c.498C= (p.Asp166=) n.292C= c.132C= (p.Asp44=) c.417C= (p.Asp139=) c.282C= (p.Asp94=) c.-853C= (n.-853C=) | |
12 | g.101786085G>T | CA386304925 | GNPTAB | c.498C>A (p.Asp166Glu) n.292C>A c.132C>A (p.Asp44Glu) c.417C>A (p.Asp139Glu) c.282C>A (p.Asp94Glu) c.-853C>A (n.-853C>A) | |
12 | g.101786086T>A | CA386304926 | GNPTAB | c.497A>T (p.Asp166Val) n.291A>T c.131A>T (p.Asp44Val) c.416A>T (p.Asp139Val) c.281A>T (p.Asp94Val) c.-854A>T (n.-854A>T) | |
12 | g.101786086T>C | CA386304927 | GNPTAB | c.497A>G (p.Asp166Gly) n.291A>G c.131A>G (p.Asp44Gly) c.416A>G (p.Asp139Gly) c.281A>G (p.Asp94Gly) c.-854A>G (n.-854A>G) | |
12 | g.101786086T>G | CA386304928 | GNPTAB | c.497A>C (p.Asp166Ala) n.291A>C c.131A>C (p.Asp44Ala) c.416A>C (p.Asp139Ala) c.281A>C (p.Asp94Ala) c.-854A>C (n.-854A>C) | |
12 | g.101786087C>A | CA386304929 | GNPTAB | c.496G>T (p.Asp166Tyr) n.290G>T c.130G>T (p.Asp44Tyr) c.415G>T (p.Asp139Tyr) c.280G>T (p.Asp94Tyr) c.-855G>T (n.-855G>T) | |
12 | g.101786087C= | CA2058964816 | GNPTAB | c.496G= (p.Asp166=) n.290G= c.130G= (p.Asp44=) c.415G= (p.Asp139=) c.280G= (p.Asp94=) c.-855G= (n.-855G=) | |
12 | g.101786087C>G | CA386304930 | GNPTAB | c.496G>C (p.Asp166His) n.290G>C c.130G>C (p.Asp44His) c.415G>C (p.Asp139His) c.280G>C (p.Asp94His) c.-855G>C (n.-855G>C) | dbSNP |
12 | g.101786087C>T | CA386304931 | GNPTAB | c.496G>A (p.Asp166Asn) n.290G>A c.130G>A (p.Asp44Asn) c.415G>A (p.Asp139Asn) c.280G>A (p.Asp94Asn) c.-855G>A (n.-855G>A) | |
12 | g.101786088A>C | CA386304932 | GNPTAB | c.495T>G (p.Ser165Arg) n.289T>G c.129T>G (p.Ser43Arg) c.414T>G (p.Ser138Arg) c.279T>G (p.Ser93Arg) c.-856T>G (n.-856T>G) | |
12 | g.101786088A>G | CA481326249 | GNPTAB | c.495T>C (p.Ser165=) n.289T>C c.129T>C (p.Ser43=) c.414T>C (p.Ser138=) c.279T>C (p.Ser93=) c.-856T>C (n.-856T>C) | |
12 | g.101786088A>T | CA386304933 | GNPTAB | c.495T>A (p.Ser165Arg) n.289T>A c.129T>A (p.Ser43Arg) c.414T>A (p.Ser138Arg) c.279T>A (p.Ser93Arg) c.-856T>A (n.-856T>A) | |
12 | g.101786089C>A | CA386304934 | GNPTAB | c.494G>T (p.Ser165Ile) n.288G>T c.128G>T (p.Ser43Ile) c.413G>T (p.Ser138Ile) c.278G>T (p.Ser93Ile) c.-857G>T (n.-857G>T) | |
12 | g.101786089C= | CA2058964817 | GNPTAB | c.494G= (p.Ser165=) n.288G= c.128G= (p.Ser43=) c.413G= (p.Ser138=) c.278G= (p.Ser93=) c.-857G= (n.-857G=) | |
12 | g.101786089C>G | CA386304935 | GNPTAB | c.494G>C (p.Ser165Thr) n.288G>C c.128G>C (p.Ser43Thr) c.413G>C (p.Ser138Thr) c.278G>C (p.Ser93Thr) c.-857G>C (n.-857G>C) | dbSNP |
12 | g.101786089C>T | CA386304936 | GNPTAB | c.494G>A (p.Ser165Asn) n.288G>A c.128G>A (p.Ser43Asn) c.413G>A (p.Ser138Asn) c.278G>A (p.Ser93Asn) c.-857G>A (n.-857G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101786090T>A | CA386304938 | GNPTAB | c.493A>T (p.Ser165Cys) n.287A>T c.127A>T (p.Ser43Cys) c.412A>T (p.Ser138Cys) c.277A>T (p.Ser93Cys) c.-858A>T (n.-858A>T) | |
12 | g.101786090T>C | CA386304939 | GNPTAB | c.493A>G (p.Ser165Gly) n.287A>G c.127A>G (p.Ser43Gly) c.412A>G (p.Ser138Gly) c.277A>G (p.Ser93Gly) c.-858A>G (n.-858A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786090T>G | CA386304937 | GNPTAB | c.493A>C (p.Ser165Arg) n.287A>C c.127A>C (p.Ser43Arg) c.412A>C (p.Ser138Arg) c.277A>C (p.Ser93Arg) c.-858A>C (n.-858A>C) | |
12 | g.101786090T= | CA2058964818 | GNPTAB | c.493A= (p.Ser165=) n.287A= c.127A= (p.Ser43=) c.412A= (p.Ser138=) c.277A= (p.Ser93=) c.-858A= (n.-858A=) | |
12 | g.101786091G>A | CA481326250 | GNPTAB | c.492C>T (p.Ala164=) n.286C>T c.126C>T (p.Ala42=) c.411C>T (p.Ala137=) c.276C>T (p.Ala92=) c.-859C>T (n.-859C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101786091G>C | CA481326251 | GNPTAB | c.492C>G (p.Ala164=) n.286C>G c.126C>G (p.Ala42=) c.411C>G (p.Ala137=) c.276C>G (p.Ala92=) c.-859C>G (n.-859C>G) | |
12 | g.101786091G= | CA2058964819 | GNPTAB | c.492C= (p.Ala164=) n.286C= c.126C= (p.Ala42=) c.411C= (p.Ala137=) c.276C= (p.Ala92=) c.-859C= (n.-859C=) | |
12 | g.101786091G>T | CA481326252 | GNPTAB | c.492C>A (p.Ala164=) n.286C>A c.126C>A (p.Ala42=) c.411C>A (p.Ala137=) c.276C>A (p.Ala92=) c.-859C>A (n.-859C>A) | |
12 | g.101786092G>A | CA386304940 | GNPTAB | c.491C>T (p.Ala164Val) n.285C>T c.125C>T (p.Ala42Val) c.410C>T (p.Ala137Val) c.275C>T (p.Ala92Val) c.-860C>T (n.-860C>T) | dbSNP gnomAD v4 |
12 | g.101786092G>C | CA386304941 | GNPTAB | c.491C>G (p.Ala164Gly) n.285C>G c.125C>G (p.Ala42Gly) c.410C>G (p.Ala137Gly) c.275C>G (p.Ala92Gly) c.-860C>G (n.-860C>G) | |
12 | g.101786092G= | CA2058964820 | GNPTAB | c.491C= (p.Ala164=) n.285C= c.125C= (p.Ala42=) c.410C= (p.Ala137=) c.275C= (p.Ala92=) c.-860C= (n.-860C=) | |
12 | g.101786092G>T | CA386304942 | GNPTAB | c.491C>A (p.Ala164Asp) n.285C>A c.125C>A (p.Ala42Asp) c.410C>A (p.Ala137Asp) c.275C>A (p.Ala92Asp) c.-860C>A (n.-860C>A) | |
12 | g.101786093C>A | CA386304943 | GNPTAB | c.490G>T (p.Ala164Ser) n.284G>T c.124G>T (p.Ala42Ser) c.409G>T (p.Ala137Ser) c.274G>T (p.Ala92Ser) c.-861G>T (n.-861G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786093C= | CA2058964821 | GNPTAB | c.490G= (p.Ala164=) n.284G= c.124G= (p.Ala42=) c.409G= (p.Ala137=) c.274G= (p.Ala92=) c.-861G= (n.-861G=) | |
12 | g.101786093C>G | CA386304944 | GNPTAB | c.490G>C (p.Ala164Pro) n.284G>C c.124G>C (p.Ala42Pro) c.409G>C (p.Ala137Pro) c.274G>C (p.Ala92Pro) c.-861G>C (n.-861G>C) | |
12 | g.101786093C>T | CA386304945 | GNPTAB | c.490G>A (p.Ala164Thr) n.284G>A c.124G>A (p.Ala42Thr) c.409G>A (p.Ala137Thr) c.274G>A (p.Ala92Thr) c.-861G>A (n.-861G>A) | dbSNP |
12 | g.101786094A>C | CA481326254 | GNPTAB | c.489T>G (p.Ser163=) n.283T>G c.123T>G (p.Ser41=) c.408T>G (p.Ser136=) c.273T>G (p.Ser91=) c.-862T>G (n.-862T>G) | gnomAD v4 |
12 | g.101786094A>G | CA481326255 | GNPTAB | c.489T>C (p.Ser163=) n.283T>C c.123T>C (p.Ser41=) c.408T>C (p.Ser136=) c.273T>C (p.Ser91=) c.-862T>C (n.-862T>C) | |
12 | g.101786094A>T | CA481326256 | GNPTAB | c.489T>A (p.Ser163=) n.283T>A c.123T>A (p.Ser41=) c.408T>A (p.Ser136=) c.273T>A (p.Ser91=) c.-862T>A (n.-862T>A) | |
12 | g.101786095G>A | CA386304946 | GNPTAB | c.488C>T (p.Ser163Phe) n.282C>T c.122C>T (p.Ser41Phe) c.407C>T (p.Ser136Phe) c.272C>T (p.Ser91Phe) c.-863C>T (n.-863C>T) | |
12 | g.101786095G>C | CA386304947 | GNPTAB | c.488C>G (p.Ser163Cys) n.282C>G c.122C>G (p.Ser41Cys) c.407C>G (p.Ser136Cys) c.272C>G (p.Ser91Cys) c.-863C>G (n.-863C>G) | |
12 | g.101786095G>T | CA386304948 | GNPTAB | c.488C>A (p.Ser163Tyr) n.282C>A c.122C>A (p.Ser41Tyr) c.407C>A (p.Ser136Tyr) c.272C>A (p.Ser91Tyr) c.-863C>A (n.-863C>A) | |
12 | g.101786096A>C | CA386304949 | GNPTAB | c.487T>G (p.Ser163Ala) n.281T>G c.121T>G (p.Ser41Ala) c.406T>G (p.Ser136Ala) c.271T>G (p.Ser91Ala) c.-864T>G (n.-864T>G) | |
12 | g.101786096A>G | CA386304950 | GNPTAB | c.487T>C (p.Ser163Pro) n.281T>C c.121T>C (p.Ser41Pro) c.406T>C (p.Ser136Pro) c.271T>C (p.Ser91Pro) c.-864T>C (n.-864T>C) | |
12 | g.101786096A>T | CA386304951 | GNPTAB | c.487T>A (p.Ser163Thr) n.281T>A c.121T>A (p.Ser41Thr) c.406T>A (p.Ser136Thr) c.271T>A (p.Ser91Thr) c.-864T>A (n.-864T>A) | |
12 | g.101786097A>C | CA386304953 | GNPTAB | c.486T>G (p.His162Gln) n.280T>G c.120T>G (p.His40Gln) c.405T>G (p.His135Gln) c.270T>G (p.His90Gln) c.-865T>G (n.-865T>G) | |
12 | g.101786097A>G | CA481326257 | GNPTAB | c.486T>C (p.His162=) n.280T>C c.120T>C (p.His40=) c.405T>C (p.His135=) c.270T>C (p.His90=) c.-865T>C (n.-865T>C) | |
12 | g.101786097A>T | CA386304952 | GNPTAB | c.486T>A (p.His162Gln) n.280T>A c.120T>A (p.His40Gln) c.405T>A (p.His135Gln) c.270T>A (p.His90Gln) c.-865T>A (n.-865T>A) | |
12 | g.101786098T>A | CA6746873 | GNPTAB | c.485A>T (p.His162Leu) n.279A>T c.119A>T (p.His40Leu) c.404A>T (p.His135Leu) c.269A>T (p.His90Leu) c.-866A>T (n.-866A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101786098T>C | CA386304954 | GNPTAB | c.485A>G (p.His162Arg) n.279A>G c.119A>G (p.His40Arg) c.404A>G (p.His135Arg) c.269A>G (p.His90Arg) c.-866A>G (n.-866A>G) | gnomAD v4 |
12 | g.101786098T>G | CA386304955 | GNPTAB | c.485A>C (p.His162Pro) n.279A>C c.119A>C (p.His40Pro) c.404A>C (p.His135Pro) c.269A>C (p.His90Pro) c.-866A>C (n.-866A>C) | |
12 | g.101786098T= | CA2058964822 | GNPTAB | c.485A= (p.His162=) n.279A= c.119A= (p.His40=) c.404A= (p.His135=) c.269A= (p.His90=) c.-866A= (n.-866A=) | |
12 | g.101786099del | CA2580085646 | GNPTAB | c.484del (p.His162IlefsTer?) n.278del c.118del (p.His40IlefsTer?) c.403del (p.His135IlefsTer?) c.268del (p.His90IlefsTer?) c.-867del (n.-867del) | ClinVar |
12 | g.101786099G>A | CA386304956 | GNPTAB | c.484C>T (p.His162Tyr) n.278C>T c.118C>T (p.His40Tyr) c.403C>T (p.His135Tyr) c.268C>T (p.His90Tyr) c.-867C>T (n.-867C>T) | |
12 | g.101786099G>C | CA386304957 | GNPTAB | c.484C>G (p.His162Asp) n.278C>G c.118C>G (p.His40Asp) c.403C>G (p.His135Asp) c.268C>G (p.His90Asp) c.-867C>G (n.-867C>G) | |
12 | g.101786099G>T | CA386304958 | GNPTAB | c.484C>A (p.His162Asn) n.278C>A c.118C>A (p.His40Asn) c.403C>A (p.His135Asn) c.268C>A (p.His90Asn) c.-867C>A (n.-867C>A) | |
12 | g.101786100A>C | CA386304959 | GNPTAB | c.483T>G (p.Phe161Leu) n.277T>G c.117T>G (p.Phe39Leu) c.402T>G (p.Phe134Leu) c.267T>G (p.Phe89Leu) c.-868T>G (n.-868T>G) | gnomAD v4 |
12 | g.101786100A>G | CA481326258 | GNPTAB | c.483T>C (p.Phe161=) n.277T>C c.117T>C (p.Phe39=) c.402T>C (p.Phe134=) c.267T>C (p.Phe89=) c.-868T>C (n.-868T>C) | |
12 | g.101786100A>T | CA386304960 | GNPTAB | c.483T>A (p.Phe161Leu) n.277T>A c.117T>A (p.Phe39Leu) c.402T>A (p.Phe134Leu) c.267T>A (p.Phe89Leu) c.-868T>A (n.-868T>A) | |
12 | g.101786103del | CA2573332474 | GNPTAB | c.483del (p.His162IlefsTer?) n.277del c.117del (p.His40IlefsTer?) c.402del (p.His135IlefsTer?) c.267del (p.His90IlefsTer?) c.-868del (n.-868del) | |
12 | g.101786101A>C | CA386304961 | GNPTAB | c.482T>G (p.Phe161Cys) n.276T>G c.116T>G (p.Phe39Cys) c.401T>G (p.Phe134Cys) c.266T>G (p.Phe89Cys) c.-869T>G (n.-869T>G) | |
12 | g.101786101A>G | CA386304962 | GNPTAB | c.482T>C (p.Phe161Ser) n.276T>C c.116T>C (p.Phe39Ser) c.401T>C (p.Phe134Ser) c.266T>C (p.Phe89Ser) c.-869T>C (n.-869T>C) | |
12 | g.101786101A>T | CA386304963 | GNPTAB | c.482T>A (p.Phe161Tyr) n.276T>A c.116T>A (p.Phe39Tyr) c.401T>A (p.Phe134Tyr) c.266T>A (p.Phe89Tyr) c.-869T>A (n.-869T>A) | |
12 | g.101786102A>C | CA386304964 | GNPTAB | c.481T>G (p.Phe161Val) n.275T>G c.115T>G (p.Phe39Val) c.400T>G (p.Phe134Val) c.265T>G (p.Phe89Val) c.-870T>G (n.-870T>G) | |
12 | g.101786102A>G | CA386304965 | GNPTAB | c.481T>C (p.Phe161Leu) n.275T>C c.115T>C (p.Phe39Leu) c.400T>C (p.Phe134Leu) c.265T>C (p.Phe89Leu) c.-870T>C (n.-870T>C) | |
12 | g.101786102A>T | CA386304966 | GNPTAB | c.481T>A (p.Phe161Ile) n.275T>A c.115T>A (p.Phe39Ile) c.400T>A (p.Phe134Ile) c.265T>A (p.Phe89Ile) c.-870T>A (n.-870T>A) | |
12 | g.101786103A= | CA2058964823 | GNPTAB | c.480T= (p.Ser160=) n.274T= c.114T= (p.Ser38=) c.399T= (p.Ser133=) c.264T= (p.Ser88=) c.-871T= (n.-871T=) | |
12 | g.101786103A>C | CA481326259 | GNPTAB | c.480T>G (p.Ser160=) n.274T>G c.114T>G (p.Ser38=) c.399T>G (p.Ser133=) c.264T>G (p.Ser88=) c.-871T>G (n.-871T>G) | |
12 | g.101786103A>G | CA481326260 | GNPTAB | c.480T>C (p.Ser160=) n.274T>C c.114T>C (p.Ser38=) c.399T>C (p.Ser133=) c.264T>C (p.Ser88=) c.-871T>C (n.-871T>C) | ClinVar dbSNP gnomAD v4 |
12 | g.101786103A>T | CA481326261 | GNPTAB | c.480T>A (p.Ser160=) n.274T>A c.114T>A (p.Ser38=) c.399T>A (p.Ser133=) c.264T>A (p.Ser88=) c.-871T>A (n.-871T>A) | |
12 | g.101786104G>A | CA386304968 | GNPTAB | c.479C>T (p.Ser160Phe) n.273C>T c.113C>T (p.Ser38Phe) c.398C>T (p.Ser133Phe) c.263C>T (p.Ser88Phe) c.-872C>T (n.-872C>T) | gnomAD v4 |
12 | g.101786104G>C | CA386304969 | GNPTAB | c.479C>G (p.Ser160Cys) n.273C>G c.113C>G (p.Ser38Cys) c.398C>G (p.Ser133Cys) c.263C>G (p.Ser88Cys) c.-872C>G (n.-872C>G) | |
12 | g.101786104G>T | CA386304967 | GNPTAB | c.479C>A (p.Ser160Tyr) n.273C>A c.113C>A (p.Ser38Tyr) c.398C>A (p.Ser133Tyr) c.263C>A (p.Ser88Tyr) c.-872C>A (n.-872C>A) | |
12 | g.101786105A>C | CA386304972 | GNPTAB | c.478T>G (p.Ser160Ala) n.272T>G c.112T>G (p.Ser38Ala) c.397T>G (p.Ser133Ala) c.262T>G (p.Ser88Ala) c.-873T>G (n.-873T>G) | |
12 | g.101786105A>G | CA386304970 | GNPTAB | c.478T>C (p.Ser160Pro) n.272T>C c.112T>C (p.Ser38Pro) c.397T>C (p.Ser133Pro) c.262T>C (p.Ser88Pro) c.-873T>C (n.-873T>C) | |
12 | g.101786105A>T | CA386304971 | GNPTAB | c.478T>A (p.Ser160Thr) n.272T>A c.112T>A (p.Ser38Thr) c.397T>A (p.Ser133Thr) c.262T>A (p.Ser88Thr) c.-873T>A (n.-873T>A) | |
12 | g.101786106A= | CA2058964824 | GNPTAB | c.477T= (p.Pro159=) n.271T= c.111T= (p.Pro37=) c.396T= (p.Pro132=) c.261T= (p.Pro87=) c.-874T= (n.-874T=) | |
12 | g.101786106A>C | CA481326262 | GNPTAB | c.477T>G (p.Pro159=) n.271T>G c.111T>G (p.Pro37=) c.396T>G (p.Pro132=) c.261T>G (p.Pro87=) c.-874T>G (n.-874T>G) | |
12 | g.101786106A>G | CA6746874 | GNPTAB | c.477T>C (p.Pro159=) n.271T>C c.111T>C (p.Pro37=) c.396T>C (p.Pro132=) c.261T>C (p.Pro87=) c.-874T>C (n.-874T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101786106A>T | CA481326263 | GNPTAB | c.477T>A (p.Pro159=) n.271T>A c.111T>A (p.Pro37=) c.396T>A (p.Pro132=) c.261T>A (p.Pro87=) c.-874T>A (n.-874T>A) | gnomAD v4 |
12 | g.101786107G>A | CA386304973 | GNPTAB | c.476C>T (p.Pro159Leu) n.270C>T c.110C>T (p.Pro37Leu) c.395C>T (p.Pro132Leu) c.260C>T (p.Pro87Leu) c.-875C>T (n.-875C>T) | |
12 | g.101786107G>C | CA386304974 | GNPTAB | c.476C>G (p.Pro159Arg) n.270C>G c.110C>G (p.Pro37Arg) c.395C>G (p.Pro132Arg) c.260C>G (p.Pro87Arg) c.-875C>G (n.-875C>G) | |
12 | g.101786107G>T | CA386304975 | GNPTAB | c.476C>A (p.Pro159His) n.270C>A c.110C>A (p.Pro37His) c.395C>A (p.Pro132His) c.260C>A (p.Pro87His) c.-875C>A (n.-875C>A) | |
12 | g.101786108G>A | CA386304976 | GNPTAB | c.475C>T (p.Pro159Ser) n.269C>T c.109C>T (p.Pro37Ser) c.394C>T (p.Pro132Ser) c.259C>T (p.Pro87Ser) c.-876C>T (n.-876C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786108G>C | CA386304977 | GNPTAB | c.475C>G (p.Pro159Ala) n.269C>G c.109C>G (p.Pro37Ala) c.394C>G (p.Pro132Ala) c.259C>G (p.Pro87Ala) c.-876C>G (n.-876C>G) | gnomAD v4 |
12 | g.101786108G= | CA2058964825 | GNPTAB | c.475C= (p.Pro159=) n.269C= c.109C= (p.Pro37=) c.394C= (p.Pro132=) c.259C= (p.Pro87=) c.-876C= (n.-876C=) | |
12 | g.101786108G>T | CA386304978 | GNPTAB | c.475C>A (p.Pro159Thr) n.269C>A c.109C>A (p.Pro37Thr) c.394C>A (p.Pro132Thr) c.259C>A (p.Pro87Thr) c.-876C>A (n.-876C>A) | |
12 | g.101786109A>C | CA386304979 | GNPTAB | c.474T>G (p.Tyr158Ter) n.268T>G c.108T>G (p.Tyr36Ter) c.393T>G (p.Tyr131Ter) c.258T>G (p.Tyr86Ter) c.-877T>G (n.-877T>G) | |
12 | g.101786109A>G | CA481326264 | GNPTAB | c.474T>C (p.Tyr158=) n.268T>C c.108T>C (p.Tyr36=) c.393T>C (p.Tyr131=) c.258T>C (p.Tyr86=) c.-877T>C (n.-877T>C) | |
12 | g.101786109A>T | CA386304980 | GNPTAB | c.474T>A (p.Tyr158Ter) n.268T>A c.108T>A (p.Tyr36Ter) c.393T>A (p.Tyr131Ter) c.258T>A (p.Tyr86Ter) c.-877T>A (n.-877T>A) | |
12 | g.101786110T>A | CA386304982 | GNPTAB | c.473A>T (p.Tyr158Phe) n.267A>T c.107A>T (p.Tyr36Phe) c.392A>T (p.Tyr131Phe) c.257A>T (p.Tyr86Phe) c.-878A>T (n.-878A>T) | |
12 | g.101786110T>C | CA242473379 | GNPTAB | c.473A>G (p.Tyr158Cys) n.267A>G c.107A>G (p.Tyr36Cys) c.392A>G (p.Tyr131Cys) c.257A>G (p.Tyr86Cys) c.-878A>G (n.-878A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786110T>G | CA386304981 | GNPTAB | c.473A>C (p.Tyr158Ser) n.267A>C c.107A>C (p.Tyr36Ser) c.392A>C (p.Tyr131Ser) c.257A>C (p.Tyr86Ser) c.-878A>C (n.-878A>C) | |
12 | g.101786110T= | CA2058964826 | GNPTAB | c.473A= (p.Tyr158=) n.267A= c.107A= (p.Tyr36=) c.392A= (p.Tyr131=) c.257A= (p.Tyr86=) c.-878A= (n.-878A=) | |
12 | g.101786111A>C | CA386304983 | GNPTAB | c.472T>G (p.Tyr158Asp) n.266T>G c.106T>G (p.Tyr36Asp) c.391T>G (p.Tyr131Asp) c.256T>G (p.Tyr86Asp) c.-879T>G (n.-879T>G) | |
12 | g.101786111A>G | CA386304984 | GNPTAB | c.472T>C (p.Tyr158His) n.266T>C c.106T>C (p.Tyr36His) c.391T>C (p.Tyr131His) c.256T>C (p.Tyr86His) c.-879T>C (n.-879T>C) | |
12 | g.101786111A>T | CA386304985 | GNPTAB | c.472T>A (p.Tyr158Asn) n.266T>A c.106T>A (p.Tyr36Asn) c.391T>A (p.Tyr131Asn) c.256T>A (p.Tyr86Asn) c.-879T>A (n.-879T>A) | |
12 | g.101786112_101786113del | CA2695217348 | GNPTAB | c.471_472del (p.Tyr158SerfsTer8) n.265_266del c.105_106del (p.Tyr36SerfsTer8) c.390_391del (p.Tyr131SerfsTer8) c.255_256del (p.Tyr86SerfsTer8) c.-880_-879del (n.-880_-879del) | |
12 | g.101786112A>C | CA481326265 | GNPTAB | c.471T>G (p.Leu157=) n.265T>G c.105T>G (p.Leu35=) c.390T>G (p.Leu130=) c.255T>G (p.Leu85=) c.-880T>G (n.-880T>G) | gnomAD v4 |
12 | g.101786112A>G | CA481326266 | GNPTAB | c.471T>C (p.Leu157=) n.265T>C c.105T>C (p.Leu35=) c.390T>C (p.Leu130=) c.255T>C (p.Leu85=) c.-880T>C (n.-880T>C) | gnomAD v4 |
12 | g.101786112A>T | CA481326267 | GNPTAB | c.471T>A (p.Leu157=) n.265T>A c.105T>A (p.Leu35=) c.390T>A (p.Leu130=) c.255T>A (p.Leu85=) c.-880T>A (n.-880T>A) | |
12 | g.101786113A= | CA2058964827 | GNPTAB | c.470T= (p.Leu157=) n.264T= c.104T= (p.Leu35=) c.389T= (p.Leu130=) c.254T= (p.Leu85=) c.-881T= (n.-881T=) | |
12 | g.101786113A>C | CA386304986 | GNPTAB | c.470T>G (p.Leu157Arg) n.264T>G c.104T>G (p.Leu35Arg) c.389T>G (p.Leu130Arg) c.254T>G (p.Leu85Arg) c.-881T>G (n.-881T>G) | |
12 | g.101786113A>G | CA242473380 | GNPTAB | c.470T>C (p.Leu157Pro) n.264T>C c.104T>C (p.Leu35Pro) c.389T>C (p.Leu130Pro) c.254T>C (p.Leu85Pro) c.-881T>C (n.-881T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101786113A>T | CA386304987 | GNPTAB | c.470T>A (p.Leu157His) n.264T>A c.104T>A (p.Leu35His) c.389T>A (p.Leu130His) c.254T>A (p.Leu85His) c.-881T>A (n.-881T>A) | |
12 | g.101786114G>A | CA386304988 | GNPTAB | c.469C>T (p.Leu157Phe) n.263C>T c.103C>T (p.Leu35Phe) c.388C>T (p.Leu130Phe) c.253C>T (p.Leu85Phe) c.-882C>T (n.-882C>T) | |
12 | g.101786114G>C | CA386304989 | GNPTAB | c.469C>G (p.Leu157Val) n.263C>G c.103C>G (p.Leu35Val) c.388C>G (p.Leu130Val) c.253C>G (p.Leu85Val) c.-882C>G (n.-882C>G) | |
12 | g.101786114G>T | CA386304990 | GNPTAB | c.469C>A (p.Leu157Ile) n.263C>A c.103C>A (p.Leu35Ile) c.388C>A (p.Leu130Ile) c.253C>A (p.Leu85Ile) c.-882C>A (n.-882C>A) | |
12 | g.101786115A= | CA2058964828 | GNPTAB | c.468T= (p.Ser156=) n.262T= c.102T= (p.Ser34=) c.387T= (p.Ser129=) c.252T= (p.Ser84=) c.-883T= (n.-883T=) | |
12 | g.101786115A>C | CA481326268 | GNPTAB | c.468T>G (p.Ser156=) n.262T>G c.102T>G (p.Ser34=) c.387T>G (p.Ser129=) c.252T>G (p.Ser84=) c.-883T>G (n.-883T>G) | |
12 | g.101786115A>G | CA481326269 | GNPTAB | c.468T>C (p.Ser156=) n.262T>C c.102T>C (p.Ser34=) c.387T>C (p.Ser129=) c.252T>C (p.Ser84=) c.-883T>C (n.-883T>C) | |
12 | g.101786115A>T | CA481326270 | GNPTAB | c.468T>A (p.Ser156=) n.262T>A c.102T>A (p.Ser34=) c.387T>A (p.Ser129=) c.252T>A (p.Ser84=) c.-883T>A (n.-883T>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101786116G>A | CA386304991 | GNPTAB | c.467C>T (p.Ser156Phe) n.261C>T c.101C>T (p.Ser34Phe) c.386C>T (p.Ser129Phe) c.251C>T (p.Ser84Phe) c.-884C>T (n.-884C>T) | |
12 | g.101786116G>C | CA386304992 | GNPTAB | c.467C>G (p.Ser156Cys) n.261C>G c.101C>G (p.Ser34Cys) c.386C>G (p.Ser129Cys) c.251C>G (p.Ser84Cys) c.-884C>G (n.-884C>G) | |
12 | g.101786116G>T | CA386304993 | GNPTAB | c.467C>A (p.Ser156Tyr) n.261C>A c.101C>A (p.Ser34Tyr) c.386C>A (p.Ser129Tyr) c.251C>A (p.Ser84Tyr) c.-884C>A (n.-884C>A) | |
12 | g.101786117A= | CA2058964829 | GNPTAB | c.466T= (p.Ser156=) n.260T= c.100T= (p.Ser34=) c.385T= (p.Ser129=) c.250T= (p.Ser84=) c.-885T= (n.-885T=) | |
12 | g.101786117A>C | CA386304995 | GNPTAB | c.466T>G (p.Ser156Ala) n.260T>G c.100T>G (p.Ser34Ala) c.385T>G (p.Ser129Ala) c.250T>G (p.Ser84Ala) c.-885T>G (n.-885T>G) | gnomAD v4 |
12 | g.101786117A>G | CA6746875 | GNPTAB | c.466T>C (p.Ser156Pro) n.260T>C c.100T>C (p.Ser34Pro) c.385T>C (p.Ser129Pro) c.250T>C (p.Ser84Pro) c.-885T>C (n.-885T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101786117A>T | CA386304994 | GNPTAB | c.466T>A (p.Ser156Thr) n.260T>A c.100T>A (p.Ser34Thr) c.385T>A (p.Ser129Thr) c.250T>A (p.Ser84Thr) c.-885T>A (n.-885T>A) | |
12 | g.101786118T>A | CA481326271 | GNPTAB | c.465A>T (p.Pro155=) n.259A>T c.99A>T (p.Pro33=) c.384A>T (p.Pro128=) c.249A>T (p.Pro83=) c.-886A>T (n.-886A>T) | |
12 | g.101786118T>C | CA481326272 | GNPTAB | c.465A>G (p.Pro155=) n.259A>G c.99A>G (p.Pro33=) c.384A>G (p.Pro128=) c.249A>G (p.Pro83=) c.-886A>G (n.-886A>G) | ClinVar dbSNP gnomAD v4 |
12 | g.101786118T>G | CA481326273 | GNPTAB | c.465A>C (p.Pro155=) n.259A>C c.99A>C (p.Pro33=) c.384A>C (p.Pro128=) c.249A>C (p.Pro83=) c.-886A>C (n.-886A>C) | |
12 | g.101786118T= | CA2058964830 | GNPTAB | c.465A= (p.Pro155=) n.259A= c.99A= (p.Pro33=) c.384A= (p.Pro128=) c.249A= (p.Pro83=) c.-886A= (n.-886A=) | |
12 | g.101786119G>A | CA386304996 | GNPTAB | c.464C>T (p.Pro155Leu) n.258C>T c.98C>T (p.Pro33Leu) c.383C>T (p.Pro128Leu) c.248C>T (p.Pro83Leu) c.-887C>T (n.-887C>T) | gnomAD v4 |
12 | g.101786119G>C | CA386304997 | GNPTAB | c.464C>G (p.Pro155Arg) n.258C>G c.98C>G (p.Pro33Arg) c.383C>G (p.Pro128Arg) c.248C>G (p.Pro83Arg) c.-887C>G (n.-887C>G) | |
12 | g.101786119G>T | CA386304998 | GNPTAB | c.464C>A (p.Pro155Gln) n.258C>A c.98C>A (p.Pro33Gln) c.383C>A (p.Pro128Gln) c.248C>A (p.Pro83Gln) c.-887C>A (n.-887C>A) | |
12 | g.101786120G>A | CA386304999 | GNPTAB | c.463C>T (p.Pro155Ser) n.257C>T c.97C>T (p.Pro33Ser) c.382C>T (p.Pro128Ser) c.247C>T (p.Pro83Ser) c.-888C>T (n.-888C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.101786120G>C | CA386305000 | GNPTAB | c.463C>G (p.Pro155Ala) n.257C>G c.97C>G (p.Pro33Ala) c.382C>G (p.Pro128Ala) c.247C>G (p.Pro83Ala) c.-888C>G (n.-888C>G) | |
12 | g.101786120G= | CA2058964831 | GNPTAB | c.463C= (p.Pro155=) n.257C= c.97C= (p.Pro33=) c.382C= (p.Pro128=) c.247C= (p.Pro83=) c.-888C= (n.-888C=) | |
12 | g.101786120G>T | CA386305001 | GNPTAB | c.463C>A (p.Pro155Thr) n.257C>A c.97C>A (p.Pro33Thr) c.382C>A (p.Pro128Thr) c.247C>A (p.Pro83Thr) c.-888C>A (n.-888C>A) | |
12 | g.101786121C>A | CA481326274 | GNPTAB | c.462G>T (p.Leu154=) n.256G>T c.96G>T (p.Leu32=) c.381G>T (p.Leu127=) c.246G>T (p.Leu82=) c.-889G>T (n.-889G>T) | |
12 | g.101786121C>G | CA481326275 | GNPTAB | c.462G>C (p.Leu154=) n.256G>C c.96G>C (p.Leu32=) c.381G>C (p.Leu127=) c.246G>C (p.Leu82=) c.-889G>C (n.-889G>C) | ClinVar gnomAD v4 |
12 | g.101786121C>T | CA481326276 | GNPTAB | c.462G>A (p.Leu154=) n.256G>A c.96G>A (p.Leu32=) c.381G>A (p.Leu127=) c.246G>A (p.Leu82=) c.-889G>A (n.-889G>A) | ClinVar dbSNP |
12 | g.101786122A>C | CA386305002 | GNPTAB | c.461T>G (p.Leu154Arg) n.255T>G c.95T>G (p.Leu32Arg) c.380T>G (p.Leu127Arg) c.245T>G (p.Leu82Arg) c.-890T>G (n.-890T>G) | |
12 | g.101786122A>G | CA386305003 | GNPTAB | c.461T>C (p.Leu154Pro) n.255T>C c.95T>C (p.Leu32Pro) c.380T>C (p.Leu127Pro) c.245T>C (p.Leu82Pro) c.-890T>C (n.-890T>C) | |
12 | g.101786122A>T | CA386305004 | GNPTAB | c.461T>A (p.Leu154Gln) n.255T>A c.95T>A (p.Leu32Gln) c.380T>A (p.Leu127Gln) c.245T>A (p.Leu82Gln) c.-890T>A (n.-890T>A) | |
12 | g.101786123G>A | CA242473381 | GNPTAB | c.460C>T (p.Leu154=) n.254C>T c.94C>T (p.Leu32=) c.379C>T (p.Leu127=) c.244C>T (p.Leu82=) c.-891C>T (n.-891C>T) | dbSNP |
12 | g.101786123G>C | CA386305005 | GNPTAB | c.460C>G (p.Leu154Val) n.254C>G c.94C>G (p.Leu32Val) c.379C>G (p.Leu127Val) c.244C>G (p.Leu82Val) c.-891C>G (n.-891C>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101786123G= | CA2058964832 | GNPTAB | c.460C= (p.Leu154=) n.254C= c.94C= (p.Leu32=) c.379C= (p.Leu127=) c.244C= (p.Leu82=) c.-891C= (n.-891C=) | |
12 | g.101786123G>T | CA386305006 | GNPTAB | c.460C>A (p.Leu154Met) n.254C>A c.94C>A (p.Leu32Met) c.379C>A (p.Leu127Met) c.244C>A (p.Leu82Met) c.-891C>A (n.-891C>A) | |
12 | g.101786124G>A | CA481326277 | GNPTAB | c.459C>T (p.Asp153=) n.253C>T c.93C>T (p.Asp31=) c.378C>T (p.Asp126=) c.243C>T (p.Asp81=) c.-892C>T (n.-892C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786124G>C | CA386305007 | GNPTAB | c.459C>G (p.Asp153Glu) n.253C>G c.93C>G (p.Asp31Glu) c.378C>G (p.Asp126Glu) c.243C>G (p.Asp81Glu) c.-892C>G (n.-892C>G) | |
12 | g.101786124G= | CA2058964833 | GNPTAB | c.459C= (p.Asp153=) n.253C= c.93C= (p.Asp31=) c.378C= (p.Asp126=) c.243C= (p.Asp81=) c.-892C= (n.-892C=) | |
12 | g.101786124G>T | CA6746876 | GNPTAB | c.459C>A (p.Asp153Glu) n.253C>A c.93C>A (p.Asp31Glu) c.378C>A (p.Asp126Glu) c.243C>A (p.Asp81Glu) c.-892C>A (n.-892C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.101786125T>A | CA386305010 | GNPTAB | c.458A>T (p.Asp153Val) n.252A>T c.92A>T (p.Asp31Val) c.377A>T (p.Asp126Val) c.242A>T (p.Asp81Val) c.-893A>T (n.-893A>T) | |
12 | g.101786125T>C | CA386305009 | GNPTAB | c.458A>G (p.Asp153Gly) n.252A>G c.92A>G (p.Asp31Gly) c.377A>G (p.Asp126Gly) c.242A>G (p.Asp81Gly) c.-893A>G (n.-893A>G) | gnomAD v4 |
12 | g.101786125T>G | CA386305008 | GNPTAB | c.458A>C (p.Asp153Ala) n.252A>C c.92A>C (p.Asp31Ala) c.377A>C (p.Asp126Ala) c.242A>C (p.Asp81Ala) c.-893A>C (n.-893A>C) | dbSNP |
12 | g.101786125T= | CA2058964834 | GNPTAB | c.458A= (p.Asp153=) n.252A= c.92A= (p.Asp31=) c.377A= (p.Asp126=) c.242A= (p.Asp81=) c.-893A= (n.-893A=) | |
12 | g.101786126C>A | CA386305011 | GNPTAB | c.457G>T (p.Asp153Tyr) n.251G>T c.91G>T (p.Asp31Tyr) c.376G>T (p.Asp126Tyr) c.241G>T (p.Asp81Tyr) c.-894G>T (n.-894G>T) | |
12 | g.101786126C= | CA2058964835 | GNPTAB | c.457G= (p.Asp153=) n.251G= c.91G= (p.Asp31=) c.376G= (p.Asp126=) c.241G= (p.Asp81=) c.-894G= (n.-894G=) | |
12 | g.101786126C>G | CA386305012 | GNPTAB | c.457G>C (p.Asp153His) n.251G>C c.91G>C (p.Asp31His) c.376G>C (p.Asp126His) c.241G>C (p.Asp81His) c.-894G>C (n.-894G>C) | |
12 | g.101786126C>T | CA10640664 | GNPTAB | c.457G>A (p.Asp153Asn) n.251G>A c.91G>A (p.Asp31Asn) c.376G>A (p.Asp126Asn) c.241G>A (p.Asp81Asn) c.-894G>A (n.-894G>A) | ClinVar dbSNP gnomAD v4 |
12 | g.101786127C>A | CA386305013 | GNPTAB | c.456G>T (p.Lys152Asn) n.250G>T c.90G>T (p.Lys30Asn) c.375G>T (p.Lys125Asn) c.240G>T (p.Lys80Asn) c.-895G>T (n.-895G>T) | |
12 | g.101786127C>G | CA386305014 | GNPTAB | c.456G>C (p.Lys152Asn) n.250G>C c.90G>C (p.Lys30Asn) c.375G>C (p.Lys125Asn) c.240G>C (p.Lys80Asn) c.-895G>C (n.-895G>C) | |
12 | g.101786127C>T | CA481326278 | GNPTAB | c.456G>A (p.Lys152=) n.250G>A c.90G>A (p.Lys30=) c.375G>A (p.Lys125=) c.240G>A (p.Lys80=) c.-895G>A (n.-895G>A) | |
12 | g.101786128T>A | CA386305015 | GNPTAB | c.455A>T (p.Lys152Met) n.249A>T c.89A>T (p.Lys30Met) c.374A>T (p.Lys125Met) c.239A>T (p.Lys80Met) c.-896A>T (n.-896A>T) | |
12 | g.101786128T>C | CA386305016 | GNPTAB | c.455A>G (p.Lys152Arg) n.249A>G c.89A>G (p.Lys30Arg) c.374A>G (p.Lys125Arg) c.239A>G (p.Lys80Arg) c.-896A>G (n.-896A>G) | |
12 | g.101786128T>G | CA386305017 | GNPTAB | c.455A>C (p.Lys152Thr) n.249A>C c.89A>C (p.Lys30Thr) c.374A>C (p.Lys125Thr) c.239A>C (p.Lys80Thr) c.-896A>C (n.-896A>C) | |
12 | g.101786129T>A | CA386305018 | GNPTAB | c.454A>T (p.Lys152Ter) n.248A>T c.88A>T (p.Lys30Ter) c.373A>T (p.Lys125Ter) c.238A>T (p.Lys80Ter) c.-897A>T (n.-897A>T) | |
12 | g.101786129T>C | CA386305019 | GNPTAB | c.454A>G (p.Lys152Glu) n.248A>G c.88A>G (p.Lys30Glu) c.373A>G (p.Lys125Glu) c.238A>G (p.Lys80Glu) c.-897A>G (n.-897A>G) | |
12 | g.101786129T>G | CA386305020 | GNPTAB | c.454A>C (p.Lys152Gln) n.248A>C c.88A>C (p.Lys30Gln) c.373A>C (p.Lys125Gln) c.238A>C (p.Lys80Gln) c.-897A>C (n.-897A>C) | |
12 | g.101786130C>A | CA481326279 | GNPTAB | c.453G>T (p.Leu151=) n.247G>T c.87G>T (p.Leu29=) c.372G>T (p.Leu124=) c.237G>T (p.Leu79=) c.-898G>T (n.-898G>T) | |
12 | g.101786130C>G | CA481326280 | GNPTAB | c.453G>C (p.Leu151=) n.247G>C c.87G>C (p.Leu29=) c.372G>C (p.Leu124=) c.237G>C (p.Leu79=) c.-898G>C (n.-898G>C) | |
12 | g.101786130C>T | CA481326281 | GNPTAB | c.453G>A (p.Leu151=) n.247G>A c.87G>A (p.Leu29=) c.372G>A (p.Leu124=) c.237G>A (p.Leu79=) c.-898G>A (n.-898G>A) | |
12 | g.101786131A= | CA2058964836 | GNPTAB | c.452T= (p.Leu151=) n.246T= c.86T= (p.Leu29=) c.371T= (p.Leu124=) c.236T= (p.Leu79=) c.-899T= (n.-899T=) | |
12 | g.101786131A>C | CA6746877 | GNPTAB | c.452T>G (p.Leu151Arg) n.246T>G c.86T>G (p.Leu29Arg) c.371T>G (p.Leu124Arg) c.236T>G (p.Leu79Arg) c.-899T>G (n.-899T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786131A>G | CA386305021 | GNPTAB | c.452T>C (p.Leu151Pro) n.246T>C c.86T>C (p.Leu29Pro) c.371T>C (p.Leu124Pro) c.236T>C (p.Leu79Pro) c.-899T>C (n.-899T>C) | |
12 | g.101786131A>T | CA386305022 | GNPTAB | c.452T>A (p.Leu151Gln) n.246T>A c.86T>A (p.Leu29Gln) c.371T>A (p.Leu124Gln) c.236T>A (p.Leu79Gln) c.-899T>A (n.-899T>A) | |
12 | g.101786132G>A | CA481326282 | GNPTAB | c.451C>T (p.Leu151=) n.245C>T c.85C>T (p.Leu29=) c.370C>T (p.Leu124=) c.235C>T (p.Leu79=) c.-900C>T (n.-900C>T) | ClinVar dbSNP |
12 | g.101786132G>C | CA242473409 | GNPTAB | c.451C>G (p.Leu151Val) n.245C>G c.85C>G (p.Leu29Val) c.370C>G (p.Leu124Val) c.235C>G (p.Leu79Val) c.-900C>G (n.-900C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101786132G= | CA2058964837 | GNPTAB | c.451C= (p.Leu151=) n.245C= c.85C= (p.Leu29=) c.370C= (p.Leu124=) c.235C= (p.Leu79=) c.-900C= (n.-900C=) | |
12 | g.101786132G>T | CA386305023 | GNPTAB | c.451C>A (p.Leu151Met) n.245C>A c.85C>A (p.Leu29Met) c.370C>A (p.Leu124Met) c.235C>A (p.Leu79Met) c.-900C>A (n.-900C>A) | |
12 | g.101786133G>A | CA481326283 | GNPTAB | c.450C>T (p.Thr150=) n.244C>T c.84C>T (p.Thr28=) c.369C>T (p.Thr123=) c.234C>T (p.Thr78=) c.-901C>T (n.-901C>T) | |
12 | g.101786133G>C | CA481326284 | GNPTAB | c.450C>G (p.Thr150=) n.244C>G c.84C>G (p.Thr28=) c.369C>G (p.Thr123=) c.234C>G (p.Thr78=) c.-901C>G (n.-901C>G) | |
12 | g.101786133G>T | CA481326285 | GNPTAB | c.450C>A (p.Thr150=) n.244C>A c.84C>A (p.Thr28=) c.369C>A (p.Thr123=) c.234C>A (p.Thr78=) c.-901C>A (n.-901C>A) | |
12 | g.101786134G>A | CA386305024 | GNPTAB | c.449C>T (p.Thr150Ile) n.243C>T c.83C>T (p.Thr28Ile) c.368C>T (p.Thr123Ile) c.233C>T (p.Thr78Ile) c.-902C>T (n.-902C>T) | gnomAD v4 |
12 | g.101786134G>C | CA386305026 | GNPTAB | c.449C>G (p.Thr150Ser) n.243C>G c.83C>G (p.Thr28Ser) c.368C>G (p.Thr123Ser) c.233C>G (p.Thr78Ser) c.-902C>G (n.-902C>G) | |
12 | g.101786134G>T | CA386305025 | GNPTAB | c.449C>A (p.Thr150Asn) n.243C>A c.83C>A (p.Thr28Asn) c.368C>A (p.Thr123Asn) c.233C>A (p.Thr78Asn) c.-902C>A (n.-902C>A) | |
12 | g.101786135T>A | CA386305027 | GNPTAB | c.448A>T (p.Thr150Ser) n.242A>T c.82A>T (p.Thr28Ser) c.367A>T (p.Thr123Ser) c.232A>T (p.Thr78Ser) c.-903A>T (n.-903A>T) | |
12 | g.101786135T>C | CA386305029 | GNPTAB | c.448A>G (p.Thr150Ala) n.242A>G c.82A>G (p.Thr28Ala) c.367A>G (p.Thr123Ala) c.232A>G (p.Thr78Ala) c.-903A>G (n.-903A>G) | |
12 | g.101786135T>G | CA386305028 | GNPTAB | c.448A>C (p.Thr150Pro) n.242A>C c.82A>C (p.Thr28Pro) c.367A>C (p.Thr123Pro) c.232A>C (p.Thr78Pro) c.-903A>C (n.-903A>C) | dbSNP |
12 | g.101786135T= | CA2058964838 | GNPTAB | c.448A= (p.Thr150=) n.242A= c.82A= (p.Thr28=) c.367A= (p.Thr123=) c.232A= (p.Thr78=) c.-903A= (n.-903A=) | |
12 | g.101786136G>A | CA481326286 | GNPTAB | c.447C>T (p.Ile149=) n.241C>T c.81C>T (p.Ile27=) c.366C>T (p.Ile122=) c.231C>T (p.Ile77=) c.-904C>T (n.-904C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101786136G>C | CA386305030 | GNPTAB | c.447C>G (p.Ile149Met) n.241C>G c.81C>G (p.Ile27Met) c.366C>G (p.Ile122Met) c.231C>G (p.Ile77Met) c.-904C>G (n.-904C>G) | |
12 | g.101786136G= | CA2058964839 | GNPTAB | c.447C= (p.Ile149=) n.241C= c.81C= (p.Ile27=) c.366C= (p.Ile122=) c.231C= (p.Ile77=) c.-904C= (n.-904C=) | |
12 | g.101786136G>T | CA481326287 | GNPTAB | c.447C>A (p.Ile149=) n.241C>A c.81C>A (p.Ile27=) c.366C>A (p.Ile122=) c.231C>A (p.Ile77=) c.-904C>A (n.-904C>A) | gnomAD v4 |
12 | g.101786137A>C | CA386305031 | GNPTAB | c.446T>G (p.Ile149Ser) n.240T>G c.80T>G (p.Ile27Ser) c.365T>G (p.Ile122Ser) c.230T>G (p.Ile77Ser) c.-905T>G (n.-905T>G) | |
12 | g.101786137A>G | CA386305032 | GNPTAB | c.446T>C (p.Ile149Thr) n.240T>C c.80T>C (p.Ile27Thr) c.365T>C (p.Ile122Thr) c.230T>C (p.Ile77Thr) c.-905T>C (n.-905T>C) | |
12 | g.101786137A>T | CA386305033 | GNPTAB | c.446T>A (p.Ile149Asn) n.240T>A c.80T>A (p.Ile27Asn) c.365T>A (p.Ile122Asn) c.230T>A (p.Ile77Asn) c.-905T>A (n.-905T>A) | |
12 | g.101786138T>A | CA6746878 | GNPTAB | c.445A>T (p.Ile149Phe) n.239A>T c.79A>T (p.Ile27Phe) c.364A>T (p.Ile122Phe) c.229A>T (p.Ile77Phe) c.-906A>T (n.-906A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786138T>C | CA386305034 | GNPTAB | c.445A>G (p.Ile149Val) n.239A>G c.79A>G (p.Ile27Val) c.364A>G (p.Ile122Val) c.229A>G (p.Ile77Val) c.-906A>G (n.-906A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786138T>G | CA386305035 | GNPTAB | c.445A>C (p.Ile149Leu) n.239A>C c.79A>C (p.Ile27Leu) c.364A>C (p.Ile122Leu) c.229A>C (p.Ile77Leu) c.-906A>C (n.-906A>C) | |
12 | g.101786138T= | CA2058964840 | GNPTAB | c.445A= (p.Ile149=) n.239A= c.79A= (p.Ile27=) c.364A= (p.Ile122=) c.229A= (p.Ile77=) c.-906A= (n.-906A=) | |
12 | g.101786139G>A | CA481326288 | GNPTAB | c.444C>T (p.Asn148=) n.238C>T c.78C>T (p.Asn26=) c.363C>T (p.Asn121=) c.228C>T (p.Asn76=) c.-907C>T (n.-907C>T) | |
12 | g.101786139G>C | CA386305036 | GNPTAB | c.444C>G (p.Asn148Lys) n.238C>G c.78C>G (p.Asn26Lys) c.363C>G (p.Asn121Lys) c.228C>G (p.Asn76Lys) c.-907C>G (n.-907C>G) | |
12 | g.101786139G>T | CA386305037 | GNPTAB | c.444C>A (p.Asn148Lys) n.238C>A c.78C>A (p.Asn26Lys) c.363C>A (p.Asn121Lys) c.228C>A (p.Asn76Lys) c.-907C>A (n.-907C>A) | |
12 | g.101786140T>A | CA386305040 | GNPTAB | c.443A>T (p.Asn148Ile) n.237A>T c.77A>T (p.Asn26Ile) c.362A>T (p.Asn121Ile) c.227A>T (p.Asn76Ile) c.-908A>T (n.-908A>T) | |
12 | g.101786140T>C | CA386305039 | GNPTAB | c.443A>G (p.Asn148Ser) n.237A>G c.77A>G (p.Asn26Ser) c.362A>G (p.Asn121Ser) c.227A>G (p.Asn76Ser) c.-908A>G (n.-908A>G) | gnomAD v4 |
12 | g.101786140T>G | CA386305038 | GNPTAB | c.443A>C (p.Asn148Thr) n.237A>C c.77A>C (p.Asn26Thr) c.362A>C (p.Asn121Thr) c.227A>C (p.Asn76Thr) c.-908A>C (n.-908A>C) | gnomAD v4 |
12 | g.101786141T>A | CA386305041 | GNPTAB | c.442A>T (p.Asn148Tyr) n.236A>T c.76A>T (p.Asn26Tyr) c.361A>T (p.Asn121Tyr) c.226A>T (p.Asn76Tyr) c.-909A>T (n.-909A>T) | |
12 | g.101786141T>C | CA386305042 | GNPTAB | c.442A>G (p.Asn148Asp) n.236A>G c.76A>G (p.Asn26Asp) c.361A>G (p.Asn121Asp) c.226A>G (p.Asn76Asp) c.-909A>G (n.-909A>G) | dbSNP |
12 | g.101786141T>G | CA386305043 | GNPTAB | c.442A>C (p.Asn148His) n.236A>C c.76A>C (p.Asn26His) c.361A>C (p.Asn121His) c.226A>C (p.Asn76His) c.-909A>C (n.-909A>C) | |
12 | g.101786141T= | CA2058964842 | GNPTAB | c.442A= (p.Asn148=) n.236A= c.76A= (p.Asn26=) c.361A= (p.Asn121=) c.226A= (p.Asn76=) c.-909A= (n.-909A=) | |
12 | g.101786141_101786142delinsTG | CA2058964841 | GNPTAB | c.441_442delinsCA (p.Ala147=) n.235_236delinsCA c.75_76delinsCA (p.Ala25=) c.360_361delinsCA (p.Ala120=) c.225_226delinsCA (p.Ala75=) c.-910_-909delinsCA (n.-910_-909delinsCA) | |
12 | g.101786142G>A | CA481326289 | GNPTAB | c.441C>T (p.Ala147=) n.235C>T c.75C>T (p.Ala25=) c.360C>T (p.Ala120=) c.225C>T (p.Ala75=) c.-910C>T (n.-910C>T) | |
12 | g.101786142G>C | CA481326290 | GNPTAB | c.441C>G (p.Ala147=) n.235C>G c.75C>G (p.Ala25=) c.360C>G (p.Ala120=) c.225C>G (p.Ala75=) c.-910C>G (n.-910C>G) | |
12 | g.101786142G>T | CA481326291 | GNPTAB | c.441C>A (p.Ala147=) n.235C>A c.75C>A (p.Ala25=) c.360C>A (p.Ala120=) c.225C>A (p.Ala75=) c.-910C>A (n.-910C>A) | ClinVar |
12 | g.101786143del | CA343405 | GNPTAB | c.441del (p.Asn148ThrfsTer4) n.235del c.75del (p.Asn26ThrfsTer4) c.360del (p.Asn121ThrfsTer4) c.225del (p.Asn76ThrfsTer4) c.-910del (n.-910del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786143G>A | CA386305044 | GNPTAB | c.440C>T (p.Ala147Val) n.234C>T c.74C>T (p.Ala25Val) c.359C>T (p.Ala120Val) c.224C>T (p.Ala75Val) c.-911C>T (n.-911C>T) | |
12 | g.101786143G>C | CA6746879 | GNPTAB | c.440C>G (p.Ala147Gly) n.234C>G c.74C>G (p.Ala25Gly) c.359C>G (p.Ala120Gly) c.224C>G (p.Ala75Gly) c.-911C>G (n.-911C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101786143G= | CA2058964843 | GNPTAB | c.440C= (p.Ala147=) n.234C= c.74C= (p.Ala25=) c.359C= (p.Ala120=) c.224C= (p.Ala75=) c.-911C= (n.-911C=) | |
12 | g.101786143G>T | CA386305045 | GNPTAB | c.440C>A (p.Ala147Asp) n.234C>A c.74C>A (p.Ala25Asp) c.359C>A (p.Ala120Asp) c.224C>A (p.Ala75Asp) c.-911C>A (n.-911C>A) | |
12 | g.101786144C>A | CA386305046 | GNPTAB | c.439G>T (p.Ala147Ser) n.233G>T c.73G>T (p.Ala25Ser) c.358G>T (p.Ala120Ser) c.223G>T (p.Ala75Ser) c.-912G>T (n.-912G>T) | |
12 | g.101786144C>G | CA386305047 | GNPTAB | c.439G>C (p.Ala147Pro) n.233G>C c.73G>C (p.Ala25Pro) c.358G>C (p.Ala120Pro) c.223G>C (p.Ala75Pro) c.-912G>C (n.-912G>C) | |
12 | g.101786144C>T | CA386305048 | GNPTAB | c.439G>A (p.Ala147Thr) n.233G>A c.73G>A (p.Ala25Thr) c.358G>A (p.Ala120Thr) c.223G>A (p.Ala75Thr) c.-912G>A (n.-912G>A) | |
12 | g.101786145T>A | CA481326292 | GNPTAB | c.438A>T (p.Pro146=) n.232A>T c.72A>T (p.Pro24=) c.357A>T (p.Pro119=) c.222A>T (p.Pro74=) c.-913A>T (n.-913A>T) | |
12 | g.101786145T>C | CA481326294 | GNPTAB | c.438A>G (p.Pro146=) n.232A>G c.72A>G (p.Pro24=) c.357A>G (p.Pro119=) c.222A>G (p.Pro74=) c.-913A>G (n.-913A>G) | dbSNP |
12 | g.101786145T>G | CA481326293 | GNPTAB | c.438A>C (p.Pro146=) n.232A>C c.72A>C (p.Pro24=) c.357A>C (p.Pro119=) c.222A>C (p.Pro74=) c.-913A>C (n.-913A>C) | dbSNP gnomAD v4 |
12 | g.101786145T= | CA2058964844 | GNPTAB | c.438A= (p.Pro146=) n.232A= c.72A= (p.Pro24=) c.357A= (p.Pro119=) c.222A= (p.Pro74=) c.-913A= (n.-913A=) | |
12 | g.101786146G>A | CA386305050 | GNPTAB | c.437C>T (p.Pro146Leu) n.231C>T c.71C>T (p.Pro24Leu) c.356C>T (p.Pro119Leu) c.221C>T (p.Pro74Leu) c.-914C>T (n.-914C>T) | gnomAD v4 |
12 | g.101786146G>C | CA386305051 | GNPTAB | c.437C>G (p.Pro146Arg) n.231C>G c.71C>G (p.Pro24Arg) c.356C>G (p.Pro119Arg) c.221C>G (p.Pro74Arg) c.-914C>G (n.-914C>G) | gnomAD v4 |
12 | g.101786146G>T | CA386305049 | GNPTAB | c.437C>A (p.Pro146Gln) n.231C>A c.71C>A (p.Pro24Gln) c.356C>A (p.Pro119Gln) c.221C>A (p.Pro74Gln) c.-914C>A (n.-914C>A) | |
12 | g.101786147G>A | CA386305052 | GNPTAB | c.436C>T (p.Pro146Ser) n.230C>T c.70C>T (p.Pro24Ser) c.355C>T (p.Pro119Ser) c.220C>T (p.Pro74Ser) c.-915C>T (n.-915C>T) | dbSNP gnomAD v4 |
12 | g.101786147G>C | CA242473443 | GNPTAB | c.436C>G (p.Pro146Ala) n.230C>G c.70C>G (p.Pro24Ala) c.355C>G (p.Pro119Ala) c.220C>G (p.Pro74Ala) c.-915C>G (n.-915C>G) | dbSNP |
12 | g.101786147G= | CA2058964845 | GNPTAB | c.436C= (p.Pro146=) n.230C= c.70C= (p.Pro24=) c.355C= (p.Pro119=) c.220C= (p.Pro74=) c.-915C= (n.-915C=) | |
12 | g.101786147G>T | CA386305053 | GNPTAB | c.436C>A (p.Pro146Thr) n.230C>A c.70C>A (p.Pro24Thr) c.355C>A (p.Pro119Thr) c.220C>A (p.Pro74Thr) c.-915C>A (n.-915C>A) | |
12 | g.101786148C>A | CA481326295 | GNPTAB | c.435G>T (p.Leu145=) n.229G>T c.69G>T (p.Leu23=) c.354G>T (p.Leu118=) c.219G>T (p.Leu73=) c.-916G>T (n.-916G>T) | |
12 | g.101786148C>G | CA481326296 | GNPTAB | c.435G>C (p.Leu145=) n.229G>C c.69G>C (p.Leu23=) c.354G>C (p.Leu118=) c.219G>C (p.Leu73=) c.-916G>C (n.-916G>C) | |
12 | g.101786148C>T | CA481326297 | GNPTAB | c.435G>A (p.Leu145=) n.229G>A c.69G>A (p.Leu23=) c.354G>A (p.Leu118=) c.219G>A (p.Leu73=) c.-916G>A (n.-916G>A) | |
12 | g.101786149A>C | CA386305054 | GNPTAB | c.434T>G (p.Leu145Arg) n.228T>G c.68T>G (p.Leu23Arg) c.353T>G (p.Leu118Arg) c.218T>G (p.Leu73Arg) c.-917T>G (n.-917T>G) | |
12 | g.101786149A>G | CA386305055 | GNPTAB | c.434T>C (p.Leu145Pro) n.228T>C c.68T>C (p.Leu23Pro) c.353T>C (p.Leu118Pro) c.218T>C (p.Leu73Pro) c.-917T>C (n.-917T>C) | |
12 | g.101786149A>T | CA386305056 | GNPTAB | c.434T>A (p.Leu145Gln) n.228T>A c.68T>A (p.Leu23Gln) c.353T>A (p.Leu118Gln) c.218T>A (p.Leu73Gln) c.-917T>A (n.-917T>A) | |
12 | g.101786150G>A | CA6746880 | GNPTAB | c.433C>T (p.Leu145=) n.227C>T c.67C>T (p.Leu23=) c.352C>T (p.Leu118=) c.217C>T (p.Leu73=) c.-918C>T (n.-918C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786150G>C | CA386305057 | GNPTAB | c.433C>G (p.Leu145Val) n.227C>G c.67C>G (p.Leu23Val) c.352C>G (p.Leu118Val) c.217C>G (p.Leu73Val) c.-918C>G (n.-918C>G) | |
12 | g.101786150G= | CA2058964846 | GNPTAB | c.433C= (p.Leu145=) n.227C= c.67C= (p.Leu23=) c.352C= (p.Leu118=) c.217C= (p.Leu73=) c.-918C= (n.-918C=) | |
12 | g.101786150G>T | CA6746881 | GNPTAB | c.433C>A (p.Leu145Met) n.227C>A c.67C>A (p.Leu23Met) c.352C>A (p.Leu118Met) c.217C>A (p.Leu73Met) c.-918C>A (n.-918C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101786151G>A | CA6746882 | GNPTAB | c.432C>T (p.Ala144=) n.226C>T c.66C>T (p.Ala22=) c.351C>T (p.Ala117=) c.216C>T (p.Ala72=) c.-919C>T (n.-919C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786151G>C | CA481326298 | GNPTAB | c.432C>G (p.Ala144=) n.226C>G c.66C>G (p.Ala22=) c.351C>G (p.Ala117=) c.216C>G (p.Ala72=) c.-919C>G (n.-919C>G) | |
12 | g.101786151G= | CA2058964847 | GNPTAB | c.432C= (p.Ala144=) n.226C= c.66C= (p.Ala22=) c.351C= (p.Ala117=) c.216C= (p.Ala72=) c.-919C= (n.-919C=) | |
12 | g.101786151G>T | CA481326299 | GNPTAB | c.432C>A (p.Ala144=) n.226C>A c.66C>A (p.Ala22=) c.351C>A (p.Ala117=) c.216C>A (p.Ala72=) c.-919C>A (n.-919C>A) | |
12 | g.101786152G>A | CA386305058 | GNPTAB | c.431C>T (p.Ala144Val) n.225C>T c.65C>T (p.Ala22Val) c.350C>T (p.Ala117Val) c.215C>T (p.Ala72Val) c.-920C>T (n.-920C>T) | dbSNP gnomAD v2 |
12 | g.101786152G>C | CA386305059 | GNPTAB | c.431C>G (p.Ala144Gly) n.225C>G c.65C>G (p.Ala22Gly) c.350C>G (p.Ala117Gly) c.215C>G (p.Ala72Gly) c.-920C>G (n.-920C>G) | |
12 | g.101786152G= | CA2058964848 | GNPTAB | c.431C= (p.Ala144=) n.225C= c.65C= (p.Ala22=) c.350C= (p.Ala117=) c.215C= (p.Ala72=) c.-920C= (n.-920C=) | |
12 | g.101786152G>T | CA386305060 | GNPTAB | c.431C>A (p.Ala144Asp) n.225C>A c.65C>A (p.Ala22Asp) c.350C>A (p.Ala117Asp) c.215C>A (p.Ala72Asp) c.-920C>A (n.-920C>A) | dbSNP |
12 | g.101786153C>A | CA386305061 | GNPTAB | c.430G>T (p.Ala144Ser) n.224G>T c.64G>T (p.Ala22Ser) c.349G>T (p.Ala117Ser) c.214G>T (p.Ala72Ser) c.-921G>T (n.-921G>T) | gnomAD v4 |
12 | g.101786153C>G | CA386305063 | GNPTAB | c.430G>C (p.Ala144Pro) n.224G>C c.64G>C (p.Ala22Pro) c.349G>C (p.Ala117Pro) c.214G>C (p.Ala72Pro) c.-921G>C (n.-921G>C) | |
12 | g.101786153C>T | CA386305062 | GNPTAB | c.430G>A (p.Ala144Thr) n.224G>A c.64G>A (p.Ala22Thr) c.349G>A (p.Ala117Thr) c.214G>A (p.Ala72Thr) c.-921G>A (n.-921G>A) | |
12 | g.101786154T>A | CA481326300 | GNPTAB | c.429A>T (p.Pro143=) n.223A>T c.63A>T (p.Pro21=) c.348A>T (p.Pro116=) c.213A>T (p.Pro71=) c.-922A>T (n.-922A>T) | |
12 | g.101786154T>C | CA481326301 | GNPTAB | c.429A>G (p.Pro143=) n.223A>G c.63A>G (p.Pro21=) c.348A>G (p.Pro116=) c.213A>G (p.Pro71=) c.-922A>G (n.-922A>G) | |
12 | g.101786154T>G | CA6746883 | GNPTAB | c.429A>C (p.Pro143=) n.223A>C c.63A>C (p.Pro21=) c.348A>C (p.Pro116=) c.213A>C (p.Pro71=) c.-922A>C (n.-922A>C) | ClinVar dbSNP ExAC gnomAD v2 |
12 | g.101786154T= | CA2058964849 | GNPTAB | c.429A= (p.Pro143=) n.223A= c.63A= (p.Pro21=) c.348A= (p.Pro116=) c.213A= (p.Pro71=) c.-922A= (n.-922A=) | |
12 | g.101786155G>A | CA386305064 | GNPTAB | c.428C>T (p.Pro143Leu) n.222C>T c.62C>T (p.Pro21Leu) c.347C>T (p.Pro116Leu) c.212C>T (p.Pro71Leu) c.-923C>T (n.-923C>T) | |
12 | g.101786155G>C | CA386305065 | GNPTAB | c.428C>G (p.Pro143Arg) n.222C>G c.62C>G (p.Pro21Arg) c.347C>G (p.Pro116Arg) c.212C>G (p.Pro71Arg) c.-923C>G (n.-923C>G) | |
12 | g.101786155G>T | CA386305066 | GNPTAB | c.428C>A (p.Pro143Gln) n.222C>A c.62C>A (p.Pro21Gln) c.347C>A (p.Pro116Gln) c.212C>A (p.Pro71Gln) c.-923C>A (n.-923C>A) | |
12 | g.101786156G>A | CA386305067 | GNPTAB | c.427C>T (p.Pro143Ser) n.221C>T c.61C>T (p.Pro21Ser) c.346C>T (p.Pro116Ser) c.211C>T (p.Pro71Ser) c.-924C>T (n.-924C>T) | gnomAD v4 |
12 | g.101786156G>C | CA386305068 | GNPTAB | c.427C>G (p.Pro143Ala) n.221C>G c.61C>G (p.Pro21Ala) c.346C>G (p.Pro116Ala) c.211C>G (p.Pro71Ala) c.-924C>G (n.-924C>G) | |
12 | g.101786156G>T | CA386305069 | GNPTAB | c.427C>A (p.Pro143Thr) n.221C>A c.61C>A (p.Pro21Thr) c.346C>A (p.Pro116Thr) c.211C>A (p.Pro71Thr) c.-924C>A (n.-924C>A) | |
12 | g.101786157G>A | CA481326302 | GNPTAB | c.426C>T (p.Asp142=) n.220C>T c.60C>T (p.Asp20=) c.345C>T (p.Asp115=) c.210C>T (p.Asp70=) c.-925C>T (n.-925C>T) | ClinVar dbSNP |
12 | g.101786157G>C | CA386305070 | GNPTAB | c.426C>G (p.Asp142Glu) n.220C>G c.60C>G (p.Asp20Glu) c.345C>G (p.Asp115Glu) c.210C>G (p.Asp70Glu) c.-925C>G (n.-925C>G) | gnomAD v4 |
12 | g.101786157G>T | CA386305071 | GNPTAB | c.426C>A (p.Asp142Glu) n.220C>A c.60C>A (p.Asp20Glu) c.345C>A (p.Asp115Glu) c.210C>A (p.Asp70Glu) c.-925C>A (n.-925C>A) | |
12 | g.101786158T>A | CA386305072 | GNPTAB | c.425A>T (p.Asp142Val) n.219A>T c.59A>T (p.Asp20Val) c.344A>T (p.Asp115Val) c.209A>T (p.Asp70Val) c.-926A>T (n.-926A>T) | |
12 | g.101786158T>C | CA386305073 | GNPTAB | c.425A>G (p.Asp142Gly) n.219A>G c.59A>G (p.Asp20Gly) c.344A>G (p.Asp115Gly) c.209A>G (p.Asp70Gly) c.-926A>G (n.-926A>G) | dbSNP gnomAD v4 |
12 | g.101786158T>G | CA386305074 | GNPTAB | c.425A>C (p.Asp142Ala) n.219A>C c.59A>C (p.Asp20Ala) c.344A>C (p.Asp115Ala) c.209A>C (p.Asp70Ala) c.-926A>C (n.-926A>C) | dbSNP |
12 | g.101786158T= | CA2058964850 | GNPTAB | c.425A= (p.Asp142=) n.219A= c.59A= (p.Asp20=) c.344A= (p.Asp115=) c.209A= (p.Asp70=) c.-926A= (n.-926A=) | |
12 | g.101786159C>A | CA386305076 | GNPTAB | c.424G>T (p.Asp142Tyr) n.218G>T c.58G>T (p.Asp20Tyr) c.343G>T (p.Asp115Tyr) c.208G>T (p.Asp70Tyr) c.-927G>T (n.-927G>T) | |
12 | g.101786159C= | CA2058964851 | GNPTAB | c.424G= (p.Asp142=) n.218G= c.58G= (p.Asp20=) c.343G= (p.Asp115=) c.208G= (p.Asp70=) c.-927G= (n.-927G=) | |
12 | g.101786159C>G | CA6746884 | GNPTAB | c.424G>C (p.Asp142His) n.218G>C c.58G>C (p.Asp20His) c.343G>C (p.Asp115His) c.208G>C (p.Asp70His) c.-927G>C (n.-927G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101786159C>T | CA386305075 | GNPTAB | c.424G>A (p.Asp142Asn) n.218G>A c.58G>A (p.Asp20Asn) c.343G>A (p.Asp115Asn) c.208G>A (p.Asp70Asn) c.-927G>A (n.-927G>A) | |
12 | g.101786160C>A | CA481326303 | GNPTAB | c.423G>T (p.Leu141=) n.217G>T c.57G>T (p.Leu19=) c.342G>T (p.Leu114=) c.207G>T (p.Leu69=) c.-928G>T (n.-928G>T) | ClinVar dbSNP |
12 | g.101786160C>G | CA481326304 | GNPTAB | c.423G>C (p.Leu141=) n.217G>C c.57G>C (p.Leu19=) c.342G>C (p.Leu114=) c.207G>C (p.Leu69=) c.-928G>C (n.-928G>C) | |
12 | g.101786160C>T | CA481326305 | GNPTAB | c.423G>A (p.Leu141=) n.217G>A c.57G>A (p.Leu19=) c.342G>A (p.Leu114=) c.207G>A (p.Leu69=) c.-928G>A (n.-928G>A) | |
12 | g.101786161A= | CA2058964852 | GNPTAB | c.422T= (p.Leu141=) n.216T= c.56T= (p.Leu19=) c.341T= (p.Leu114=) c.206T= (p.Leu69=) c.-929T= (n.-929T=) | |
12 | g.101786161A>C | CA386305078 | GNPTAB | c.422T>G (p.Leu141Arg) n.216T>G c.56T>G (p.Leu19Arg) c.341T>G (p.Leu114Arg) c.206T>G (p.Leu69Arg) c.-929T>G (n.-929T>G) | |
12 | g.101786161A>G | CA242473477 | GNPTAB | c.422T>C (p.Leu141Pro) n.216T>C c.56T>C (p.Leu19Pro) c.341T>C (p.Leu114Pro) c.206T>C (p.Leu69Pro) c.-929T>C (n.-929T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786161A>T | CA386305077 | GNPTAB | c.422T>A (p.Leu141Gln) n.216T>A c.56T>A (p.Leu19Gln) c.341T>A (p.Leu114Gln) c.206T>A (p.Leu69Gln) c.-929T>A (n.-929T>A) | gnomAD v4 |
12 | g.101786162G>A | CA6746885 | GNPTAB | c.421C>T (p.Leu141=) n.215C>T c.55C>T (p.Leu19=) c.340C>T (p.Leu114=) c.205C>T (p.Leu69=) c.-930C>T (n.-930C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.101786162G>C | CA386305079 | GNPTAB | c.421C>G (p.Leu141Val) n.215C>G c.55C>G (p.Leu19Val) c.340C>G (p.Leu114Val) c.205C>G (p.Leu69Val) c.-930C>G (n.-930C>G) | |
12 | g.101786162G= | CA2058964853 | GNPTAB | c.421C= (p.Leu141=) n.215C= c.55C= (p.Leu19=) c.340C= (p.Leu114=) c.205C= (p.Leu69=) c.-930C= (n.-930C=) | |
12 | g.101786162G>T | CA386305080 | GNPTAB | c.421C>A (p.Leu141Met) n.215C>A c.55C>A (p.Leu19Met) c.340C>A (p.Leu114Met) c.205C>A (p.Leu69Met) c.-930C>A (n.-930C>A) | |
12 | g.101786163del | CA2620446023 | GNPTAB | c.421del (p.Leu141TrpfsTer11) n.215del c.55del (p.Leu19TrpfsTer11) c.340del (p.Leu114TrpfsTer11) c.205del (p.Leu69TrpfsTer11) c.-930del (n.-930del) | gnomAD v4 |
12 | g.101786163G>A | CA6746886 | GNPTAB | c.420C>T (p.Val140=) n.214C>T c.54C>T (p.Val18=) c.339C>T (p.Val113=) c.204C>T (p.Val68=) c.-931C>T (n.-931C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101786163G>C | CA481326306 | GNPTAB | c.420C>G (p.Val140=) n.214C>G c.54C>G (p.Val18=) c.339C>G (p.Val113=) c.204C>G (p.Val68=) c.-931C>G (n.-931C>G) | ClinVar dbSNP |
12 | g.101786163G= | CA2058964854 | GNPTAB | c.420C= (p.Val140=) n.214C= c.54C= (p.Val18=) c.339C= (p.Val113=) c.204C= (p.Val68=) c.-931C= (n.-931C=) | |
12 | g.101786163G>T | CA481326307 | GNPTAB | c.420C>A (p.Val140=) n.214C>A c.54C>A (p.Val18=) c.339C>A (p.Val113=) c.204C>A (p.Val68=) c.-931C>A (n.-931C>A) | |
12 | g.101786164A= | CA2058964855 | GNPTAB | c.419T= (p.Val140=) n.213T= c.53T= (p.Val18=) c.338T= (p.Val113=) c.203T= (p.Val68=) c.-932T= (n.-932T=) | |
12 | g.101786164A>C | CA386305081 | GNPTAB | c.419T>G (p.Val140Gly) n.213T>G c.53T>G (p.Val18Gly) c.338T>G (p.Val113Gly) c.203T>G (p.Val68Gly) c.-932T>G (n.-932T>G) | |
12 | g.101786164A>G | CA386305082 | GNPTAB | c.419T>C (p.Val140Ala) n.213T>C c.53T>C (p.Val18Ala) c.338T>C (p.Val113Ala) c.203T>C (p.Val68Ala) c.-932T>C (n.-932T>C) | dbSNP |
12 | g.101786164A>T | CA386305083 | GNPTAB | c.419T>A (p.Val140Asp) n.213T>A c.53T>A (p.Val18Asp) c.338T>A (p.Val113Asp) c.203T>A (p.Val68Asp) c.-932T>A (n.-932T>A) | |
12 | g.101786165C>A | CA386305084 | GNPTAB | c.418G>T (p.Val140Phe) n.212G>T c.52G>T (p.Val18Phe) c.337G>T (p.Val113Phe) c.202G>T (p.Val68Phe) c.-933G>T (n.-933G>T) | |
12 | g.101786165C>G | CA386305085 | GNPTAB | c.418G>C (p.Val140Leu) n.212G>C c.52G>C (p.Val18Leu) c.337G>C (p.Val113Leu) c.202G>C (p.Val68Leu) c.-933G>C (n.-933G>C) | |
12 | g.101786165C>T | CA386305086 | GNPTAB | c.418G>A (p.Val140Ile) n.212G>A c.52G>A (p.Val18Ile) c.337G>A (p.Val113Ile) c.202G>A (p.Val68Ile) c.-933G>A (n.-933G>A) | |
12 | g.101786166A>C | CA481326309 | GNPTAB | c.417T>G (p.Leu139=) n.211T>G c.51T>G (p.Leu17=) c.336T>G (p.Leu112=) c.201T>G (p.Leu67=) c.-934T>G (n.-934T>G) | |
12 | g.101786166A>G | CA481326310 | GNPTAB | c.417T>C (p.Leu139=) n.211T>C c.51T>C (p.Leu17=) c.336T>C (p.Leu112=) c.201T>C (p.Leu67=) c.-934T>C (n.-934T>C) | |
12 | g.101786166A>T | CA481326311 | GNPTAB | c.417T>A (p.Leu139=) n.211T>A c.51T>A (p.Leu17=) c.336T>A (p.Leu112=) c.201T>A (p.Leu67=) c.-934T>A (n.-934T>A) | |
12 | g.101786167A>C | CA386305089 | GNPTAB | c.416T>G (p.Leu139Arg) n.210T>G c.50T>G (p.Leu17Arg) c.335T>G (p.Leu112Arg) c.200T>G (p.Leu67Arg) c.-935T>G (n.-935T>G) | |
12 | g.101786167A>G | CA386305088 | GNPTAB | c.416T>C (p.Leu139Pro) n.210T>C c.50T>C (p.Leu17Pro) c.335T>C (p.Leu112Pro) c.200T>C (p.Leu67Pro) c.-935T>C (n.-935T>C) | gnomAD v4 |
12 | g.101786167A>T | CA386305087 | GNPTAB | c.416T>A (p.Leu139His) n.210T>A c.50T>A (p.Leu17His) c.335T>A (p.Leu112His) c.200T>A (p.Leu67His) c.-935T>A (n.-935T>A) | |
12 | g.101786168G>A | CA386305090 | GNPTAB | c.415C>T (p.Leu139Phe) n.209C>T c.49C>T (p.Leu17Phe) c.334C>T (p.Leu112Phe) c.199C>T (p.Leu67Phe) c.-936C>T (n.-936C>T) | |
12 | g.101786168G>C | CA386305091 | GNPTAB | c.415C>G (p.Leu139Val) n.209C>G c.49C>G (p.Leu17Val) c.334C>G (p.Leu112Val) c.199C>G (p.Leu67Val) c.-936C>G (n.-936C>G) | |
12 | g.101786168G>T | CA386305092 | GNPTAB | c.415C>A (p.Leu139Ile) n.209C>A c.49C>A (p.Leu17Ile) c.334C>A (p.Leu112Ile) c.199C>A (p.Leu67Ile) c.-936C>A (n.-936C>A) |